Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

BACKGROUND: Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases. METHODS: To identify the genetic cau...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Garcia-Garcia, Gema, Aparisi, Maria J, Jaijo, Teresa, Rodrigo, Regina, Leon, Ana M, Avila-Fernandez, Almudena, Blanco-Kelly, Fiona, Bernal, Sara, Navarro, Rafael, Diaz-Llopis, Manuel, Baiget, Montserrat, Ayuso, Carmen, Millan, Jose M, Aller, Elena
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2011
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3207874/
https://ncbi.nlm.nih.gov/pubmed/22004887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-65
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky