Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families-Reference-Cited by-同舟云学术

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Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families

Published:2018-09 Issue: Volume:17 Page:48-55
ISSN:2214-5400
Container-title:Meta Gene
language:en
Short-container-title:Meta Gene

Author:

Arshad Muhammad Waqar,Harlalka Gaurav V.,Lin Siying,D'Atri Ilaria,Mehmood Sarmad,Shakil Muhammad,Hassan Muhammad Jawad,Chioza Barry A.,Self Jay E.,Ennis Sarah,O'Gorman Luke,Norman Chelsea,Aman Tahir,Ali Shaheer Sabz,Kaul Haiba,Baple Emma L.,Crosby Andrew H.,Ullah Muhammad Ikram,Shabbir Muhammad Imran

Funder

IIU, Islamabad

Wellcome Trust

Warman Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome;Ammann;Blood,2016

2. Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients;Chaki;J. Invest. Dermatol.,2011

3. Pink-eyed dilution protein controls the processing of tyrosinase;Chen;Mol. Biol. Cell,2002

4. Synergistic interaction of the OCA2 and OCA3 genes in a family;Chiang;Am. J. Med. Genet. A,2008

5. Albinism in Africa: stigma, slaughter and awareness campaigns;Cruz-Inigo;Dermatol. Clin.,2011

Cited by 12 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. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families;BMC Ophthalmology;2024-08-14

2. Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case;Molecular Genetics & Genomic Medicine;2024-02

3. MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma;Clinical Genetics;2023-06-15

4. An integrative investigation of developmental toxicities induced by triphenyltin in a larval coral reef fish, Amphiprion ocellaris;Science of The Total Environment;2023-04

5. FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus;Genes;2023-01-29

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