Étude du gène CFTR chez 207 patients du Sud-Ouest de la France atteints de mucoviscidose : fréquence élevée des mutations N1303K et 1811+1,6kbA>G
- Other title
- CFTR gene analysis in 207 patients with cystic fibrosis in southwest France : high frequency of N1303K and 1811 + 1,6 kbA > G mutations (en)
- Author
- FEDERICI, S1 ; IRON, A2 ; REBOUL, M. P2 ; DESGEORGES, M3 ; CLAUSTRES, M3 ; BREMONT, F4 ; BIETH, E1
[1] Génétique médicale, pavillon Lefebvre, hôpital Purpan, place du Docteur-Baylac, 31059 Toulouse, France
[2] Biochimie et génétique moléculaire, hôpital Pellegrin, place Amélie-Raba-Léon, 33076 Bordeaux, France
[3] Institut de biologie, 4, boulevard Henri-IV, 34060 Montpellier, France
[4] Pneumologie pédiatrique, hôpital des Enfants, 330, avenue de Grande-Bretagne, 31026 Toulouse, France - Conference title
- Société française d'oncologie pédiatrique. Compte rendu de réunion
- Conference name
- Société française d'oncologie pédiatrique. Compte rendu de réunion (Montpellier 2000-06-19)
- Author (monograph)
- Société française d'oncologie pédiatrique, France (Funder/Sponsor)
- Source
Archives de pédiatrie (Paris). 2001, Vol 8, Num 2, pp 150-157 ; ref : 16 ref
- ISSN
- 0929-693X
- Scientific domain
- Pediatrics
- Publisher
- Elsevier, Paris
- Publication country
- France
- Document type
- Conference Paper
- Language
- French
- Keyword (fr)
- Conseil génétique Dépistage Enfant Génotype Incidence Mucoviscidose Mutation Régulateur conductance transmembranaire mucoviscidose Répartition géographique France Appareil digestif pathologie Appareil respiratoire pathologie Génétique Homme Maladie héréditaire Métabolisme pathologie Pancréas pathologie Europe
- Keyword (en)
- Genetic counseling Medical screening Child Genotype Incidence Cystic fibrosis Mutation Cystic fibrosis transmembrane conductance regulator Geographic distribution France Digestive diseases Respiratory disease Genetics Human Genetic disease Metabolic diseases Pancreatic disease Europe
- Keyword (es)
- Consejo genético Descubrimiento Niño Genotipo Incidencia Mucoviscidosis Mutación Regulator conductancia transmembrana mucoviscidosis Distribución geográfica Francia Aparato digestivo patología Aparato respiratorio patología Genética Hombre Enfermedad hereditaria Metabolismo patología Páncreas patología Europa
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B11 Pneumology / 002B11D Respiratory system : syndromes and miscellaneous diseases
- Discipline
- Pulmonology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 924824
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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DOI
10.1016/S0929-693X(00)00177-9 
https://dx.doi.org/10.1016/S0929-693X(00)00177-9
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