Literature DB >> 26686029

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

Emanuela Veniani1, Lucia Mauri1, Emanuela Manfredini1, Giovanni P Gesu1, Maria Cristina Patrosso1, Leopoldo Zelante2, Leonardo D'Agruma2, Alessandra Del Longo3, Marco Mazza3, Elena Piozzi3, Silvana Penco1, Paola Primignani4.   

Abstract

Entities:  

Keywords:  Mutational analysis; OCA6; Oculocutaneous albinism; SLC24A5

Mesh：

Substances：

Year:  2015        PMID： 26686029     DOI： 10.1016/j.jdermsci.2015.11.012

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


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  5 in total

1.  Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Authors:  Lucia Mauri; Emanuela Manfredini; Alessandra Del Longo; Emanuela Veniani; Manuela Scarcello; Roberta Terrana; Adriano Egidio Radaelli; Donata Calò; Giuseppe Mingoia; Antonella Rossetti; Giovanni Marsico; Marco Mazza; Giovanni Pietro Gesu; Maria Cristina Patrosso; Silvana Penco; Elena Piozzi; Paola Primignani
Journal:  J Hum Genet       Date:  2016-10-13       Impact factor: 3.172

Review 2.  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

3.  Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1.

Authors:  Yan Wang; Yi-Fan Zhou; Na Shen; Yao-Wu Zhu; Kun Tan; Xiong Wang
Journal:  Curr Med Sci       Date:  2018-10-20

4.  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

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
  5 in total

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