High Frequency of the R117H Cystic Fibrosis Mutation in Patients with Congenital Absence of the Vas Deferens

doi:10.1056/NEJM199302113280619

Volume 328:446-447		February 11, 1993		Number 6

High Frequency of the R117H Cystic Fibrosis Mutation in Patients with Congenital Absence of the Vas Deferens

Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

Full Text

Purchase this article

Add to Personal Archive

Add to Citation Manager

Notify a Friend

E-mail When Cited

PubMed Citation

To the Editor: We have previously described an increased frequencyof the ${delta}$ F₅₀₈ mutation of the cystic fibrosis gene in a groupof patients with congenital absence of the vas deferens¹. Thissuggested that patients heterozygous for the ${delta}$ F₅₀₈ mutation mayhave a mutation on another allele. We have looked for othermutations of the cystic fibrosis gene in a group of 23 patientswith congenital absence of the vas deferens, 11 of whom wereheterozygous for the ${delta}$ F₅₀₈ mutation. We found that four patientswere compound heterozygotes, all having an R117H mutation inexon 4 of the cystic . . . [Full Text of this Article]

References