Article
Congenital bilateral absence of the vasa deferentia and related respiratory disease.
Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica - 1 Dec 2003
De Rose Aldo F, Giglio Matteo, Gallo Fabrizio, Romano Luca, Carmignani Giorgio
Abstract excerpt
In a meaningful proportion of cases, CBAVD has been recognised as a probable consequence of cftr gene mutations. This lead to a further enlargement of the spectrum of clinical pictures due to "cftr deficiency". More recently, the identification of a polymorphism in intron 8 regulating the level of correct cftr transcription, shed new light on the genotype-fenotype correlation of cftr mutations. Unfortunately,...
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