title: Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene.
abstract: This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in "The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort" (R. Khajuria, R. Walia, A. Bhansali, R. Prasad, 2017) [1]. This dataset features about the CAH patients in the cohort, their classification into subtypes and finally screening the exon-intron boundaries of 21-Hydroxylase gene (CYP21A2) to detect common mutations, novel mutations along polymorphisms in the CYP21A2 gene. The specified large set of primers and the parameters for the mutation detection allow the identification and molecular characterization of CYP21A2 gene in the CAH patients.
authors.affiliation: Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Ragini
authors.initials: R
authors.lastname: Khajuria
authors.affiliation: Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Rama
authors.initials: R
authors.lastname: Walia
authors.affiliation: Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Anil
authors.initials: A
authors.lastname: Bhansali
authors.affiliation: Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Rajendra
authors.initials: R
authors.lastname: Prasad
keywords: CYP21A2 gene; Known mutations; Non classical; Novel mutations; Salt wasting; Simple virilizing