Article
[An analysis of the mutations in the gene of the mucoviscidosis transmembrane regulator protein (MTRP) in patients with congenital bilateral aplasia of the vas deferens].
TSitologiia i genetika - 1 Jan 2000
Gusak N M, Gorovenko N G, Gorpinchenko I I, Karmeliuk S O
Abstract excerpt
The genetic background of congenital bilateral aplasia of vas deferens (CBAVD) was studied. Eight patients from Ukraine were enrolled in our study. In each case, the clinical diagnosis of CBAVD was confirmed by testicular biopsy. None of patients had other clinical features of CF except high level of sweet Cl. Individuals underwent genetic screening for mutations in CFTR gene. Genomic DNA from six individuals was...
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