Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 2002-11, Vol.39 (11), p.e73-73
Hauptverfasser:	Reboul, M P, Bieth, E, Fayon, M, Biteau, N, Barbier, R, Dromer, C, Desgeorges, M, Claustres, M, Bremont, F, Lacombe, D, Iron, A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Alternative Splicing - genetics CFTR mutations Child Child, Preschool Cystic fibrosis Cystic Fibrosis - complications Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics DNA - chemistry DNA - genetics DNA Mutational Analysis Exocrine Pancreatic Insufficiency - complications Feces France Genotype Genotype & phenotype genotype-phenotype correlation Heterozygote Homozygote Humans Male Malnutrition Mutation mutation 1811+1.6kbA>G Online Mutation Report Phenotype
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