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

Gene. 2016 Jan 15;576(1 Pt 2):379-80. doi: 10.1016/j.gene.2015.08.039. Epub 2015 Aug 21.

Authors

Soudeh Ghafouri-Fard¹, Majid Fardaei², Mohammad Miryounesi³

Affiliations

¹ Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
² Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address: [email protected].
³ Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: [email protected].

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

No abstract available

Keywords: Mutation; Neurodegeneration; XPA; Xeroderma pigmentosumm.

Publication types

Case Reports
Letter

MeSH terms

Child
Developmental Disabilities / genetics*
Female
Frameshift Mutation*
Humans
Intellectual Disability / genetics*
Male
Pedigree
Xeroderma Pigmentosum / genetics*
Xeroderma Pigmentosum Group A Protein / genetics*

Substances

XPA protein, human
Xeroderma Pigmentosum Group A Protein