A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation

Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and progressive visual loss due to retinitis pigmentosa. The mutation that most commonly causes Usher syndrome type IIa is a 1-bp deletion, described as “2299delG,” in the USH2A gene. The mutation...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Dreyer, Bo, Tranebjærg, Lisbeth, Brox, Vigdis, Rosenberg, Thomas, Möller, Claes, Beneyto, Magdalena, Weston, Michael D., Kimberling, William J., Nilssen, Øivind
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2001
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226039/
https://ncbi.nlm.nih.gov/pubmed/11402400
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items