Literature DB >> 26491832

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana.

Antoine Bertolotti1, Eulalie Lasseaux2, Claudio Plaisant2, Aurelien Trimouille2, Fanny Morice-Picard2, Caroline Rooryck2, Didier Lacombe2, Pierre Couppie1, Benoît Arveiler2.   

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Year:  2015        PMID： 26491832     DOI： 10.1111/pcmr.12425

Source DB:  PubMed          Journal:  Pigment Cell Melanoma Res        ISSN： 1755-1471            Impact factor:   4.693


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  6 in total

Review 1.  Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Authors:  Muhammad Ikram Ullah
Journal:  Genes (Basel)       Date:  2022-06-16       Impact factor: 4.141

2.  A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

Authors:  Ali H Jalloul; Tatiana P Rogasevskaia; Robert T Szerencsei; Paul P M Schnetkamp
Journal:  J Biol Chem       Date:  2016-04-25       Impact factor: 5.157

3.  Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.

Authors:  Sairah Yousaf; Saumil Sethna; Muhammad A Chaudhary; Rehan S Shaikh; Saima Riazuddin; Zubair M Ahmed
Journal:  Pigment Cell Melanoma Res       Date:  2020-04-27       Impact factor: 4.693

4.  Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus.

Authors:  Ting-Feng Lin; Christina Gerth-Kahlert; James V M Hanson; Dominik Straumann; Melody Ying-Yu Huang
Journal:  Front Neurol       Date:  2018-03-14       Impact factor: 4.003

5.  Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Authors:  Zilin Zhong; Li Gu; Xiujie Zheng; Nengjun Ma; Zehua Wu; Juan Duan; Jun Zhang; Jianjun Chen
Journal:  Pigment Cell Melanoma Res       Date:  2019-05-29       Impact factor: 4.693

6.  Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.

Authors:  Sajjad Karim; Samah Saharti; Nofe Alganmi; Zeenat Mirza; Ahmed Alfares; Shereen Turkistany; Manal Al-Attas; Hend Noureldin; Khadega Al Sakkaf; Heba Abusamra; Mohammed Al-Qahtani; Adel Abuzenadah
Journal:  Life (Basel)       Date:  2021-12-23
  6 in total

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