SPECTRE MUTATIONNEL DE LA MALADIE DE GAUCHER EN TUNISIE : FORTE FREQUENCE DES HETEROZYGOTES COMPOSITES N370S/REC NciI
- Other title
- Mutation Spectrum of Gaucher disease in Tunisia : High frequency of N370S/Rec Ncil compound beterozygous (en)
- Author
- CHERIF, W1 2 ; BEN TURKIA, H2 ; BEN DRIDI, M.-F2 ; TEBIB, N2 ; AMARAL, O3 ; BEN RHOUMA, F1 ; ABDELMOULA, M. S2 ; AZZOUZ, H2 ; CAILLAUD, C3 ; SA MIRANDA, M.-C4 ; ABDELHAK, S1
[1] Unité 26/04 d'Exploration Moléculaire des Maladies Orphelines d'Origine Génétique, Institut Pasteur de Tunis, Tunisia
[2] Unité 25/04 de Dépistage et de Prise en charge des Maladies Héréditaires du Métabolisme, Service de Pédiatrie du CHU la Rabta Tunis, Tunisia
[3] Laboratoire de Génétique Métabolique, Faculté de Médecine de Cochin, France
[4] Département de Neurobiologie Génétique, Institut de Biologie Moléculaire et Cellulaire, université de Porto, Portugal - Source
Archives de l'Institut Pasteur de Tunis. 2007, Vol 84, Num 1-4, pp 65-70, 6 p ; ref : 21 ref
- CODEN
- APTUAO
- ISSN
- 0020-2509
- Scientific domain
- Tropical medicine
- Publisher
- Institut Pasteur de Tunis, Tunis
- Publication country
- Tunisia
- Document type
- Article
- Language
- French
- Author keyword
- Afrique du Nord Maladie de Gaucher N370S RecNciI diagnostic moléculaire gène GBA mutation
- Keyword (fr)
- Diagnostic Enfant Enzyme Lipide Mutation Médecine tropicale Sphingolipidose héréditaire de Gaucher Afrique du Nord Tunisie Enzymopathie Homme Lipoïdose Maladie héréditaire Maladie métabolique Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux Afrique
- Keyword (en)
- Diagnosis Child Enzyme Lipids Mutation Tropical medicine Gaucher disease North Africa Tunisia Enzymopathy Human Lipoidosis Genetic disease Metabolic diseases Cerebral disorder Central nervous system disease Nervous system diseases Africa
- Keyword (es)
- Diagnóstico Niño Enzima Lípido Mutación Medicina tropical Esfingolipidosis hereditaria Gaucher Africa del norte Tunez Enzimopatía Hombre Lipoidosis Enfermedad hereditaria Metabolismo patología Encéfalo patología Sistema nervosio central patología Sistema nervioso patología Africa
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Discipline
- Generalities in medical sciences Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21037385
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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