Načítá se...

Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent

Variants in the ABCA4 gene are the most common cause of juvenile-onset blindness affecting close to 1 in 10 000 people worldwide. Disease severity varies largely according to genotype, which can be specific to ethnic and racial groups. Here we investigate the spectrum of ABCA4 variation and its phen...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Eur J Hum Genet
Hlavní autoři: Lee, Winston, Schuerch, Kaspar, Zernant, Jana, Collison, Frederick T, Bearelly, Srilaxmi, Fishman, Gerald A, Tsang, Stephen H, Sparrow, Janet R, Allikmets, Rando
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477356/
https://ncbi.nlm.nih.gov/pubmed/28327576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.13
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!