Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing-Reference-Cited by-同舟云学术

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing

Published:2021-02-18 Issue:3 Volume:42 Page:291-295
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Mendez Rodrigo¹^ORCID,Iqbal Sumaiya²³⁴^ORCID,Vishnopolska Sebastián⁵^ORCID,Martinez Cinthia¹,Dibner Glenda⁶,Aliano Rocio⁶,Zaiat Jonathan⁷,Biagioli Germán⁵⁸,Fernandez Cecilia⁹,Turjanski Adrian⁷,Campbell Arthur J²³,Mercado Graciela¹,Marti Marcelo A.⁵

Affiliation:

1. Centro Nacional de Genética Médica “Dr. Eduardo E. Castilla”, ANLIS, Buenos Aires, Argentina

2. Center for Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA

3. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA

4. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA

5. Universidad de Buenos Aires, Buenos Aires, Argentina

6. Departamento de Oftalmología, Hospital Rivadavia, Buenos Aires, Argentina

7. Departamento de Química Biológica, Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Ciudad Universitaria, Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina

8. Departamento de Bioinformática, Bitgenia, Buenos Aires, Argentina

9. Laboratorio de Genética, Novagen, Buenos Aires, Argentina

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1888129

Reference29 articles.

1. Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity

2. Histidine residues at the copper-binding site in human tyrosinase are essential for its catalytic activities

3. Frontispiece: Structure and Function of Human Tyrosinase and Tyrosinase-Related Proteins

4. Mander L, Liu HW. Comprehensive natural products II: chemistry and biology. Vols. 8, 2010. Oxford (UK): Elsevier; 2010. p. 489–545.

5. Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism

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