title: A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities.
authors: Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
authors: Soudeh
authors: S
authors: Ghafouri-Fard
authors: Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address: mfardaei@sums.ac.ir.
authors: Majid
authors: M
authors: Fardaei
authors: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: miryounesi@sbmu.ac.ir.
authors: Mohammad
authors: M
authors: Miryounesi
mesh_terms: D002648:Child; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014983:Xeroderma Pigmentosum / Q000235:genetics*; D051760:Xeroderma Pigmentosum Group A Protein / Q000235:genetics*
chemical_list: C497314:XPA protein, human; D051760:Xeroderma Pigmentosum Group A Protein
keywords: Mutation; Neurodegeneration; XPA; Xeroderma pigmentosumm