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Molecular and Functional Studies of Tyrosinase Variants Among Indian Oculocutaneous Albinism Type 1 Patients

  • Published:2011-01 Issue:1 Volume:131 Page:260-262
  • ISSN:0022-202X
  • Container-title:Journal of Investigative Dermatology
  • language:en
  • Short-container-title:Journal of Investigative Dermatology

Author:

Chaki Moumita,Sengupta Mainak,Mondal Maitreyee,Bhattacharya Abhisek,Mallick Shampa,Bhadra Ranjan,Indian Genome Variation Consortium ,Ray Kunal

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference14 articles.

1. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene;Chaki;Mol Vis,2005

2. OCA1 in different ethnic groups of India is primarily due to founder mutations in the tyrosinase gene;Chaki;Ann Hum Genet,2006

3. Molecular anatomy of tyrosinase and its related proteins: beyond the histidine-bound metal catalytic center;García-Borrón;Pigment Cell Res,2002

4. RFLP for Mbol in the human tyrosinase (TYR) gene detected by PCR;Giebel;Nucleic Acids Res,1990

5. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism;Halaban;Proc Natl Acad Sci USA,2000

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