We have located links that may give you full text access.
Identification of TYR mutations in patients with oculocutaneous albinism.
Molecular Medicine Reports 2018 June
Oculocutaneous albinism (OCA) is a set of autosomal recessive disorders characterized by hypopigmented hair, skin and eyes. Homozygous or compound heterozygous mutations in the tyrosinase (TYR) gene can cause OCA1, which is the most common and severe subtype of albinism. In the present study, 17 patients with non‑syndromic OCA were enrolled from eight provinces of China and were non‑consanguineous, with the exception of Patient 4000301. Total genomic DNA was isolated from peripheral blood. Screening was performed for the whole exons and their flanking regions of the TYR gene using Sanger sequencing and the pathogenicity of variants was predicted using in silico analysis. In total, 12 TYR mutations were identified in 10 patients, respectively. Of these, two patients carried homozygous mutations and eight patients carried compound heterozygous mutations. Among the 12 TYR mutations, two missense mutations c.1198T>G (p.W400G) and c.819G>T (p.Q273H) were novel. The results of the present study expand the mutation spectrum of the TYR gene, which may further assist in the prenatal examination and genetic diagnosis of OCA.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app