A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function
- Author
- LASRY, Inbal1 ; BERMAN, Bluma1 ; STRAUSSBERG, Rachel2 ; SOFER, Yael3 ; BESSLER, Hanna4 ; SHARKIA, Mohamad5 ; GLASER, Fabian6 ; JANSEN, Gerrit7 ; DRORI, Stavit1 ; ASSARAF, Yehuda G1
[1] The Fred Wyszkowski Cancer Research Laboratory, Department of Biology, Technion-lsrael Institute of Technology, Haifa, Israel
[2] Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel
[3] Department of Medicine, C. Sheba Medical Center, Tel-Hashomer, Israel
[4] Laboratory for Immunology and Hematology Research, Rabin Medical Center, Hasharon Hospital, Petach Tikva, Israel
[5] General Health Services, Pediatric Primary Care, Jatt, Israel
[6] Bioinformatics Knowledge Unit, The Lorry I. Lokey Interdisciplinary, Center for Life Sciences and Engineering, Technion, Haifa, Israel
[7] Department of Rheumatology, VU University Medical Center, Amsterdam, Netherlands - Source
Blood. 2008, Vol 112, Num 5, pp 2055-2061, 7 p ; ref : 31 ref
- ISSN
- 0006-4971
- Scientific domain
- Medical oncology; Hematology
- Publisher
- The Americain Society of Hematology, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Folate Génétique Homme Hématologie Héréditaire Malabsorption intestinale Mutation Proton Pathologie de l'appareil digestif Pathologie de l'intestin
- Keyword (en)
- Folate Genetics Human Hematology Hereditary Intestinal malabsorption Mutation Proton Digestive diseases Intestinal disease
- Keyword (es)
- Folato Genética Hombre Hematología Hereditario Malabsorción intestinal Mutación Protón Aparato digestivo patología Intestino patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B13 Gastroenterology. Liver. Pancreas. Abdomen / 002B13B Stomach. Duodenum. Small intestine. Colon. Rectum. Anus / 002B13B03 Other diseases. Semiology
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B19 Hematologic and hematopoietic diseases
- Discipline
- Blood diseases Gastroenterology. Liver. Pancreas. Abdomen
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20613001
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1182/blood-2008-04-150276 
https://dx.doi.org/10.1182/blood-2008-04-150276
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2008-04-150276\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:171:\"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function\";s:9:\"\u0000*\u0000jtitle\";s:5:\"Blood\";s:9:\"\u0000*\u0000stitle\";s:5:\"Blood\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:3:\"112\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:4:\"2055\";s:8:\"\u0000*\u0000epage\";s:4:\"2061\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0006-4971\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"LASRY\";s:10:\"\u0000*\u0000aufirst\";s:5:\"Inbal\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:13:\"BERMAN, Bluma\";i:1;s:19:\"STRAUSSBERG, Rachel\";i:2;s:11:\"SOFER, Yael\";i:3;s:14:\"BESSLER, Hanna\";i:4;s:16:\"SHARKIA, Mohamad\";i:5;s:14:\"GLASER, Fabian\";i:6;s:14:\"JANSEN, Gerrit\";i:7;s:13:\"DRORI, Stavit\";i:8;s:17:\"ASSARAF, Yehuda G\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:171:\"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function\";s:8:\"\u0000*\u0000place\";s:14:\"Washington, DC\";s:6:\"\u0000*\u0000pub\";s:35:\"The Americain Society of Hematology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2008-04-150276\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:171:\"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function\";s:9:\"\u0000*\u0000jtitle\";s:5:\"Blood\";s:9:\"\u0000*\u0000stitle\";s:5:\"Blood\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:3:\"112\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:4:\"2055\";s:8:\"\u0000*\u0000epage\";s:4:\"2061\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0006-4971\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"LASRY\";s:10:\"\u0000*\u0000aufirst\";s:5:\"Inbal\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:13:\"BERMAN, Bluma\";i:1;s:19:\"STRAUSSBERG, Rachel\";i:2;s:11:\"SOFER, Yael\";i:3;s:14:\"BESSLER, Hanna\";i:4;s:16:\"SHARKIA, Mohamad\";i:5;s:14:\"GLASER, Fabian\";i:6;s:14:\"JANSEN, Gerrit\";i:7;s:13:\"DRORI, Stavit\";i:8;s:17:\"ASSARAF, Yehuda G\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:171:\"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function\";s:8:\"\u0000*\u0000place\";s:14:\"Washington, DC\";s:6:\"\u0000*\u0000pub\";s:35:\"The Americain Society of Hematology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2008-04-150276\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2008-04-150276\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:171:\"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function\";s:9:\"\u0000*\u0000jtitle\";s:5:\"Blood\";s:9:\"\u0000*\u0000stitle\";s:5:\"Blood\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:3:\"112\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:4:\"2055\";s:8:\"\u0000*\u0000epage\";s:4:\"2061\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0006-4971\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"LASRY\";s:10:\"\u0000*\u0000aufirst\";s:5:\"Inbal\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:13:\"BERMAN, Bluma\";i:1;s:19:\"STRAUSSBERG, Rachel\";i:2;s:11:\"SOFER, Yael\";i:3;s:14:\"BESSLER, Hanna\";i:4;s:16:\"SHARKIA, Mohamad\";i:5;s:14:\"GLASER, Fabian\";i:6;s:14:\"JANSEN, Gerrit\";i:7;s:13:\"DRORI, Stavit\";i:8;s:17:\"ASSARAF, Yehuda G\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:171:\"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function\";s:8:\"\u0000*\u0000place\";s:14:\"Washington, DC\";s:6:\"\u0000*\u0000pub\";s:35:\"The Americain Society of Hematology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2008-04-150276\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:171:\"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function\";s:9:\"\u0000*\u0000jtitle\";s:5:\"Blood\";s:9:\"\u0000*\u0000stitle\";s:5:\"Blood\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:3:\"112\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:4:\"2055\";s:8:\"\u0000*\u0000epage\";s:4:\"2061\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0006-4971\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"LASRY\";s:10:\"\u0000*\u0000aufirst\";s:5:\"Inbal\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:13:\"BERMAN, Bluma\";i:1;s:19:\"STRAUSSBERG, Rachel\";i:2;s:11:\"SOFER, Yael\";i:3;s:14:\"BESSLER, Hanna\";i:4;s:16:\"SHARKIA, Mohamad\";i:5;s:14:\"GLASER, Fabian\";i:6;s:14:\"JANSEN, Gerrit\";i:7;s:13:\"DRORI, Stavit\";i:8;s:17:\"ASSARAF, Yehuda G\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:171:\"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function\";s:8:\"\u0000*\u0000place\";s:14:\"Washington, DC\";s:6:\"\u0000*\u0000pub\";s:35:\"The Americain Society of Hematology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2008-04-150276\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:171:\"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function\";s:9:\"\u0000*\u0000jtitle\";s:5:\"Blood\";s:9:\"\u0000*\u0000stitle\";s:5:\"Blood\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:3:\"112\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:4:\"2055\";s:8:\"\u0000*\u0000epage\";s:4:\"2061\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0006-4971\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"LASRY\";s:10:\"\u0000*\u0000aufirst\";s:5:\"Inbal\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:13:\"BERMAN, Bluma\";i:1;s:19:\"STRAUSSBERG, Rachel\";i:2;s:11:\"SOFER, Yael\";i:3;s:14:\"BESSLER, Hanna\";i:4;s:16:\"SHARKIA, Mohamad\";i:5;s:14:\"GLASER, Fabian\";i:6;s:14:\"JANSEN, Gerrit\";i:7;s:13:\"DRORI, Stavit\";i:8;s:17:\"ASSARAF, Yehuda G\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:171:\"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function\";s:8:\"\u0000*\u0000place\";s:14:\"Washington, DC\";s:6:\"\u0000*\u0000pub\";s:35:\"The Americain Society of Hematology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
