Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients

Author:

Khajuria Ragini,Walia Rama,Bhansali Anil,Prasad Rajendra

Funder

Science & Engineering Research Board

ICMR-JRF

SRF

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference6 articles.

1. Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia;Khajuria;Biochimie,2018

2. The spectrum of CYP21A2 mutations in congenital adrenal hyperplasia in an Indian cohort;Khajuria;Clin. Chim. Acta,2017

3. An efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia;Xu;J. Mol. Diagn.,2013

4. Heterogeneous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens;Sharma;Hum. Reprod.,2009

5. Protein structure analysis of mutation causing inheritable disease. An e-science approach with life scientist friendly interfaces;Venselaar;BMC Bioinform.,2010

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