Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility  

Oleh:

Vinci, Giovanna ; Brauner, Raja ; Tar, Attila ; Rouba, Hassan ; Sheth, Jayesh

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 92 no. 04 (Oct. 2009), page 1347-1350.
Topik: 46; XY DSD; male infertility; TSPYL1; testis

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2009.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

We screened 100 individuals with anomalies of testicular development or function for mutations in the TSPYL1 gene. A 46,XY female with complete gonadal dysgenesis carried a p.K320R mutation in the highly conserved NAP domain, and a 46,XY male with idiopathic azoospermia harbored a p.R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular development/function.

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