title: Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.
authors.affiliation: Service de Génétique Médicale, CHU Pellegrin, Bordeaux, France.
authors.forename: M P
authors.initials: MP
authors.lastname: Reboul
authors.forename: E
authors.initials: E
authors.lastname: Bieth
authors.forename: M
authors.initials: M
authors.lastname: Fayon
authors.forename: N
authors.initials: N
authors.lastname: Biteau
authors.forename: R
authors.initials: R
authors.lastname: Barbier
authors.forename: C
authors.initials: C
authors.lastname: Dromer
authors.forename: M
authors.initials: M
authors.lastname: Desgeorges
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: F
authors.initials: F
authors.lastname: Bremont
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: A
authors.initials: A
authors.lastname: Iron
mesh_terms: 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
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA