Publications:

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes

Ullah, Muhammad Ikram MI

Publication Date: 2022-06-16

Variant appearance in text: TYR: 272G>A

PubMed Link: 35741834

Variant Present in the following documents:

• genes-13-01072.pdf

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Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.

Eye (London, England)

Shakil, Muhammad M; Harlalka, Gaurav V GV; Ali, Shamshad S; Lin, Siying S; D'Atri, Ilaria I; Hussain, Shabbir S; Nasir, Abdul A; Shahzad, Muhammad Aiman MA; Ullah, Muhammad Ikram MI; Self, Jay E JE; Baple, Emma L EL; Crosby, Andrew H AH; Mahmood, Saqib S

Publication Date: 2019-08

Variant appearance in text: TYR: 272G>A

PubMed Link: 30996339

Variant Present in the following documents:

• Main text

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs137854890

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Molecular Genetics & Genomic Medicine

Triggs-Raine, Barbara B; Dyck, Tamara T; Boycott, Kym M KM; Innes, A Micheil AM; Ober, Carole C; Parboosingh, Jillian S JS; Botkin, Alexis A; Greenberg, Cheryl R CR; Spriggs, Elizabeth L EL

Publication Date: 2016-05

Variant appearance in text: TYR: 272G>A; C91Y

PubMed Link: 27247959

Variant Present in the following documents:

• Main text

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A population-based study of autosomal-recessive disease-causing mutations in a founder population.

American Journal Of Human Genetics

Chong, Jessica X JX; Ouwenga, Rebecca R; Anderson, Rebecca L RL; Waggoner, Darrel J DJ; Ober, Carole C

Publication Date: 2012-10-05

Variant appearance in text: TYR: 272G>A; Cys91Tyr; rs137854890

PubMed Link: 22981120

Variant Present in the following documents:

• Main text

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