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Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype

โœ Scribed by Dumur, Viviane; Gervais, Radj; Rigot, Jean-Marc; Delomel-Vinner, Elisabeth; Decaestecker, Bertrand; Lafitte, Jean-Jacques; Roussel, Philippe


Book ID
118771703
Publisher
Springer
Year
1996
Tongue
English
Weight
377 KB
Volume
97
Category
Article
ISSN
0340-6717

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๐Ÿ“œ SIMILAR VOLUMES


Congenital bilateral absence of the vas
โœ R. D. Oates; J. A. Amos ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› Springer-Verlag ๐ŸŒ English โš– 798 KB

CF and CBAVD are really just ends of a clinical spectrum. The type and nature of the mutations in the CF gene probably determine the phenotypic expression of the patient. Perhaps all patients homozygous for AF508, for example, will have severe pulmonary and pancreatic disease as well as absent vasa,