Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease

AIM: To identify the disease-associated mutations in a Chinese Stargardt disease (STGD) family, extend the existing spectrum of disease-causing mutations and further define the genotype-phenotype correlations. METHODS: A Chinese STGD family and 200 normal controls were collected. Whole exome sequenc...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Int J Ophthalmol
Hlavní autoři: Hao, Xiao-Dan, Liu, Ying, Li, Bao-Wei, Wu, Wei, Zhao, Xiao-Wen
Médium: Artigo
Jazyk:Inglês
Vydáno: International Journal of Ophthalmology Press 2020
Témata:
Brief Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7137712/
https://ncbi.nlm.nih.gov/pubmed/32399422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2020.04.22
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky