Open AccessCYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children
Author(s) -
Firdevs Baş,
Hülya Kayserili,
Feyza Darendelıler,
Zehra Oya Uyguner,
Hülya Günöz,
Memnune Yüksel Apak,
Fatmahan Atalar,
Rüveyde Bundak,
Robert C. Wilson,
Maria I. New,
Bernd Wollnik,
Nurçin Saka
Publication year - 2009
Publication title -
journal of clinical research in pediatric endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.566
H-Index - 35
eISSN - 1308-5735
pISSN - 1308-5727
DOI - 10.4008/jcrpe.v1i3.49
Subject(s) - congenital adrenal hyperplasia , genotype , allele , genetics , 21 hydroxylase , compound heterozygosity , point mutation , microbiology and biotechnology , mutation , exon , medicine , gene , biology
Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom