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Clin Genet. 1997 Mar;51(3):214-6.

Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G-->T and the 711 + 1G-->T mutations.

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1
Département des Sciences Humaines, Université du Uuébec à Chicoutimi, Canada.

Abstract

We describe a family in which three sibs are compound heterozygotes for two rather rare CFTR splice-site mutations, the 621 + 1G-->T and the 711 + 1G-->T mutations. Little phenotypic variation was observed between sibs, of whom two are deceased. Their disease is characterized by pancreatic insufficiency, a severe pulmonary involvement and major growth retardation.

PMID:
9137890
[Indexed for MEDLINE]
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