Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation
- Author
- CARBALLO, Miguel1 ; ROIG, Ignasi2 ; AGUILAR, Francesc3 ; POL, Maria Antonia4 ; GAMUNDI, Maria José1 ; HERNAN, Imma1 ; MARTINEZ-GIMENO, Maria1
[1] Laboratori de Biologia i Genètica Molecular, Servei de Laboratori, Hospital de Terrassa, Terrassa, Spain
[2] Servei dAnatomia Patolôgica, Hospital de Terrassa, Terrassa, Spain
[3] Servei de Cirurgia, Hospital de Terrassa, Terrassa, Spain
[4] Servei de Dermatologia, Hospital de Terrassa, Terrassa, Spain - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2005, Vol 132A, Num 4, pp 361-364, 4 p ; ref : 23 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- GISTs
- Keyword (fr)
- Etude familiale Gène onc cellulaire Génétique Homme Hyperpigmentation Lignée germinale Milieu familial Mutation Gène c-kit Tumeur gastrointestinal Appareil digestif pathologie Estomac pathologie Intestin pathologie Peau pathologie Trouble pigmentation
- Keyword (en)
- Family study C-Onc gene Genetics Human Hypermelanosis Germ line Family environment Mutation Gastrointestinal tumor Digestive diseases Gastric disease Intestinal disease Skin disease Pigmentation disorder
- Keyword (es)
- Estudio familiar Gen onc celular Genética Hombre Hiperpigmentación Línea germinal Medio familiar Mutación Tumor gastrointestinal Aparato digestivo patología Estómago patología Intestino patología Piel patología Trastorno pigmentación
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08F Pigmentary diseases of the skin
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Dermatology Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16548565
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
10.1002/ajmg.a.30388 
https://dx.doi.org/10.1002/ajmg.a.30388
"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:20:\"10.1002\/ajmg.a.30388\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:110:\"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation\";s:9:\"\u0000*\u0000jtitle\";s:36:\"American journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2005\";s:9:\"\u0000*\u0000volume\";s:4:\"132A\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"361\";s:8:\"\u0000*\u0000epage\";s:3:\"364\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0148-7299\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"CARBALLO\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Miguel\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:12:\"ROIG, Ignasi\";i:1;s:17:\"AGUILAR, Francesc\";i:2;s:18:\"POL, Maria Antonia\";i:3;s:20:\"GAMUNDI, Maria Jos\u00e9\";i:4;s:12:\"HERNAN, Imma\";i:5;s:22:\"MARTINEZ-GIMENO, Maria\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJMGDA\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:110:\"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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:20:\"10.1002\/ajmg.a.30388\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:110:\"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation\";s:9:\"\u0000*\u0000jtitle\";s:36:\"American journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2005\";s:9:\"\u0000*\u0000volume\";s:4:\"132A\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"361\";s:8:\"\u0000*\u0000epage\";s:3:\"364\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0148-7299\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"CARBALLO\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Miguel\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:12:\"ROIG, Ignasi\";i:1;s:17:\"AGUILAR, Francesc\";i:2;s:18:\"POL, Maria Antonia\";i:3;s:20:\"GAMUNDI, Maria Jos\u00e9\";i:4;s:12:\"HERNAN, Imma\";i:5;s:22:\"MARTINEZ-GIMENO, Maria\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJMGDA\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:110:\"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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:20:\"10.1002\/ajmg.a.30388\";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:20:\"10.1002\/ajmg.a.30388\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:110:\"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation\";s:9:\"\u0000*\u0000jtitle\";s:36:\"American journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2005\";s:9:\"\u0000*\u0000volume\";s:4:\"132A\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"361\";s:8:\"\u0000*\u0000epage\";s:3:\"364\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0148-7299\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"CARBALLO\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Miguel\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:12:\"ROIG, Ignasi\";i:1;s:17:\"AGUILAR, Francesc\";i:2;s:18:\"POL, Maria Antonia\";i:3;s:20:\"GAMUNDI, Maria Jos\u00e9\";i:4;s:12:\"HERNAN, Imma\";i:5;s:22:\"MARTINEZ-GIMENO, Maria\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJMGDA\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:110:\"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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:20:\"10.1002\/ajmg.a.30388\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:110:\"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation\";s:9:\"\u0000*\u0000jtitle\";s:36:\"American journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2005\";s:9:\"\u0000*\u0000volume\";s:4:\"132A\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"361\";s:8:\"\u0000*\u0000epage\";s:3:\"364\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0148-7299\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"CARBALLO\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Miguel\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:12:\"ROIG, Ignasi\";i:1;s:17:\"AGUILAR, Francesc\";i:2;s:18:\"POL, Maria Antonia\";i:3;s:20:\"GAMUNDI, Maria Jos\u00e9\";i:4;s:12:\"HERNAN, Imma\";i:5;s:22:\"MARTINEZ-GIMENO, Maria\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJMGDA\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:110:\"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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:20:\"10.1002\/ajmg.a.30388\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:110:\"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation\";s:9:\"\u0000*\u0000jtitle\";s:36:\"American journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2005\";s:9:\"\u0000*\u0000volume\";s:4:\"132A\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"361\";s:8:\"\u0000*\u0000epage\";s:3:\"364\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0148-7299\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"CARBALLO\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Miguel\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:12:\"ROIG, Ignasi\";i:1;s:17:\"AGUILAR, Francesc\";i:2;s:18:\"POL, Maria Antonia\";i:3;s:20:\"GAMUNDI, Maria Jos\u00e9\";i:4;s:12:\"HERNAN, Imma\";i:5;s:22:\"MARTINEZ-GIMENO, Maria\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJMGDA\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:110:\"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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
