Mutational spectrum of theTYRandSLC45A2genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase-Reference-Cited by-同舟云学术

Mutational spectrum of theTYRandSLC45A2genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase

Published:2015-02-22 Issue:7 Volume:40 Page:774-780
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Shah S. A.¹,Raheem N.²,Daud S.³,Mubeen J.¹,Shaikh A. A.⁴,Baloch A. H.³,Nadeem A.¹,Tayyab M.¹,Babar M. E.⁵,Ahmad J.³

Affiliation:

1. Institute of Biochemistry and Biotechnology (IBBt); UVAS; Lahore Pakistan

2. Medical Centre; Balochistan University of Information Technology; Engineering and Management Sciences (BUITEMS); Quetta Pakistan

3. Department of Biotechnology and Informatics; BUITEMS; Quetta Pakistan

4. Department of Computer Sciences; BUITEMS; Quetta Pakistan

5. Department of Livestock Production; Faculty of Animal Production and Technology; University of Veterinary and Animal Sciences (UVAS); Lahore Pakistan

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12612/fullpdf

Reference24 articles.

1. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4;Suzuki;J Dermatol Sci,2008

2. Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects;Rooryck;Pigment Cell Melanoma Res,2008

3. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type;Hutton;J Invest Dermatol,2008

4. Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene;Puri;Hum Genet,1997

5. Oculocu-taneous albinism type 4 is one of the most common types of albinism in Japan;Inagaki;Am J Hum Genet,2004

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features;BMC Genomics;2024-09-09

2. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families;BMC Ophthalmology;2024-08-14

3. Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review;Genes;2022-06-16

4. Fast-response fluorescent probe with favorable water solubility for highly sensitive imaging of endogenous tyrosinase in living cells and zebrafish model;Chinese Chemical Letters;2021-05

5. Recent Advancement in Fluorescent Probes for Sensing and Imaging Tyrosinase Activity in Living Cells;International Journal of pharma and Bio Sciences;2021-03-05