Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Commentary
- Author
- PARVARI, Ruti (Commentator (written text))
1 ; HERSHKOVITZ, Eli; DE ZEGHER, Francis8 ; JAEKEN, Jaak8 ; MATTHIJS, Gert3 ; CREEMERS, John W. M2 ; MARTENS, Kevin2 3 ; HEULENS, Inge2 ; MEULEMANS, Sandra2 ; ZAFFANELLO, Marco4 ; TILSTRA, David5 ; HES, Frederik J6 ; ROOMAN, Raoul7 ; FRANCOIS, Inge8
[1] Department of Developmental Genetics and Virology and the National Institute of Biotechnology Negev, Ben Gurion University of the Negev, PO box 653, Beer Sheva 84105, Israel
[2] Laboratory for Biochemical Neuro-endocrinology, Department for Human Genetics, University ofLeuven and Flanders Interuniversity Institute for Biotechnology, Gent, Belgium
[3] Laboratory for Molecular Diagnosis, Department for Human Genetics, University ofLeuven, Leuven, Belgium
[4] Department of Mother and Child, Biology-Genetics, Section of Paediatrics, University of Verona, Verona, Italy
[5] CentraCare Clinic, St Cloud, MN, United States
[6] Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands
[7] Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium
[8] Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium - Source
European journal of human genetics. 2007, Vol 15, Num 10 ; 997-998, 1029-1033 [7 p.] ; ref : 21 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- PREPL SLC3A1 cystinuria growth retardation hypotonia oligopeptidase
- Keyword (fr)
- Aminoacidurie Cystinurie Distribution Délétion Génétique Retard staturopondéral Syndrome Aberration chromosomique Aminoacidopathie Enzymopathie Maladie héréditaire Maladie métabolique Pathologie de l'appareil urinaire Pathologie du rein Tubulopathie
- Keyword (en)
- Aminoaciduria Cystinuria Distribution Deletion Genetics Growth retardation Syndrome Chromosomal aberration Aminoacid disorder Enzymopathy Genetic disease Metabolic diseases Urinary system disease Kidney disease Tubulopathy
- Keyword (es)
- Aminoaciduria Cistinuria Distribución Deleción Genética Retraso pondoestatural Síndrome Aberración cromosómica Aminoacido alteración Enzimopatía Enfermedad hereditaria Metabolismo patología Aparato urinario patología Riñón patología Tubulopatía
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D01 Aminoacid disorders
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Metabolic diseases Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20041135
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
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