Načítá se...

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene

Waardenburg syndrome (WS) is a congenital hereditary disease, attributed to the most common symptoms of sensorineural deafness and iris hypopigmentation. It is also known as the hearing-pigmentation deficient syndrome. Mutations on SOXl0 gene often lead to congenital deafness and has been shown to p...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Biosci Rep
Hlavní autoři: Li, Li, Ma, Jing, He, Xiao-li, Zhou, Yuan-tao, Zhang, Yu, Chen, Quan-dong, Zhang, Lin, Ruan, Biao, Zhang, Tie-Song
Médium: Artigo
Jazyk:Inglês
Vydáno: Portland Press Ltd. 2021
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8217986/
https://ncbi.nlm.nih.gov/pubmed/33345266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20193375
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!