Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.
Reboul
M P
MP
Service de Génétique Médicale, CHU Pellegrin, Bordeaux, France.
Bieth
E
E
Fayon
M
M
Biteau
N
N
Barbier
R
R
Dromer
C
C
Desgeorges
M
M
Claustres
M
M
Bremont
F
F
Lacombe
D
D
Iron
A
A
D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications*; D005602:France; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA