Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India-Reference-Cited by-同舟云学术

Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India

Published:2019-12-13 Issue:4 Volume:45 Page:409-413
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Lewis S.S.¹,Girisha K.M.¹

Affiliation:

1. Department of Medical Genetics Kasturba Medical College Manipal Manipal Academy of Higher Education Manipal Karnataka India

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ced.14126

Reference10 articles.

1. A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4

2. Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4

3. SLC45A2 variations in Indian oculocutaneous albinism patients;Sengupta M;Mol Vis,2007

4. Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

5. Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity

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