Literature DB >> 25455140

Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.

Oscar Urtatiz1, Diana Sanabria2, María Claudia Lattig3.   

Abstract

Entities:  

Keywords:  Colombia; OCA2 gene; Oculocutaneous albinism; South America; TYR gene

Mesh：

Substances：

Year:  2014        PMID： 25455140     DOI： 10.1016/j.jdermsci.2014.09.011

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  4 in total

1.  Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Authors:  Jackson Gao; Leera D'Souza; Keith Wetherby; Christian Antolik; Melissa Reeves; David R Adams; Santa Tumminia; Xinjing Wang
Journal:  Cell Biosci       Date:  2017-04-26       Impact factor: 7.133

2.  Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

Authors:  Camilla Rocca; Lucia Tiberi; Sara Bargiacchi; Viviana Palazzo; Samuela Landini; Elisa Marziali; Roberto Caputo; Francesca Tinelli; Viviana Marchi; Alessandro Benedetto; Angelica Pagliazzi; Giacomo Maria Bacci
Journal:  Int J Mol Sci       Date:  2022-07-15       Impact factor: 6.208

3.  Mutational analysis of a Chinese family with oculocutaneous albinism type 2.

Authors:  Xiong Wang; Yaowu Zhu; Na Shen; Jing Peng; Chunyu Wang; Haiyi Liu; Yanjun Lu
Journal:  Oncotarget       Date:  2017-07-31

4.  Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.

Authors:  Laire Schidlowski; Fernando Liebert; Pérola Grupenmacher Iankilevich; Priscila Regina Orso Rebellato; Rafaela Andrade Rocha; Nadia Aparecida Pereira Almeida; Aayushee Jain; Yiming Wu; Yuval Itan; Roberto Rosati; Carolina Prando
Journal:  Front Genet       Date:  2020-04-28       Impact factor: 4.599
  4 in total

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