title: Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.
authors.affiliation: Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.
authors.forename: Jayesh
authors.initials: J
authors.lastname: Sheth
authors.affiliation: Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.
authors.forename: Mehul
authors.initials: M
authors.lastname: Mistri
authors.affiliation: Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.
authors.forename: Riddhi
authors.initials: R
authors.lastname: Bhavsar
authors.affiliation: Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.
authors.forename: Harsh
authors.initials: H
authors.lastname: Patel
authors.affiliation: Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.
authors.forename: Frenny
authors.initials: F
authors.lastname: Sheth
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014983:Xeroderma Pigmentosum / Q000235:genetics*; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; C086984:XPC protein, human