Literature DB >> 26302748

A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities.

Soudeh Ghafouri-Fard1, Majid Fardaei2, Mohammad Miryounesi3.   

Abstract

Entities:  

Keywords:  Mutation; Neurodegeneration; XPA; Xeroderma pigmentosumm

Mesh：

Substances：

Year:  2015        PMID： 26302748     DOI： 10.1016/j.gene.2015.08.039

Source DB:  PubMed          Journal:  Gene        ISSN： 0378-1119            Impact factor:   3.688


× No keyword cloud information.
  2 in total

Review 1.  XPA: A key scaffold for human nucleotide excision repair.

Authors:  Norie Sugitani; Robert M Sivley; Kelly E Perry; John A Capra; Walter J Chazin
Journal:  DNA Repair (Amst)       Date:  2016-05-20

2.  Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

Authors:  Zineb Kindil; Mohamed Amine Senhaji; Amina Bakhchane; Hicham Charoute; Soumia Chihab; Sellama Nadifi; Abdelhamid Barakat
Journal:  BMC Res Notes       Date:  2017-12-06
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.