p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens)

Int J Urol. 2015 Aug;22(8):803-4. doi: 10.1111/iju.12801. Epub 2015 May 5.

Authors

Donatello Salvatore¹, Domenico Dell'Edera², Carmela Colangelo³, Giuseppina Smaldore⁴

Affiliations

¹ Cystic Fibrosis Center, Pediatric Center Bambino Gesù Basilicata, AOR Hospital San Carlo, Potenza, Italy. donatello.salvatore@libero.it.
² Unit of Cytogenetics and Molecular Genetics, Madonna delle Grazie Hospital, Matera, Italy.
³ Cystic Fibrosis Center, Pediatric Center Bambino Gesù Basilicata, AOR Hospital San Carlo, Potenza, Italy.
⁴ Laboratory of Biochemistry, AOR Hospital San Carlo, Potenza, Italy.

PMID: 25944622
DOI: 10.1111/iju.12801

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Humans
Male
Male Urogenital Diseases / complications*
Mutation
Vas Deferens / abnormalities*

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator

Supplementary concepts

Congenital bilateral aplasia of vas deferens