E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Mutat 1997;9(2):181-2
Date
01/01/1997Pubmed ID
9067760DOI
10.1002/(SICI)1098-1004(1997)9:2<181::AID-HUMU12>3.0.CO;2-ZScopus ID
2-s2.0-0030893822 (requires institutional sign-in at Scopus site) 12 CitationsAuthor List
Kirby-Keyser L, Porter CC, Donohoue PAMESH terms used to index this publication - Major topics in bold
Adrenal Hyperplasia, CongenitalBlotting, Southern
Exons
HLA Antigens
Homozygote
Humans
Pedigree
Point Mutation
Polymerase Chain Reaction
Restriction Mapping
Sequence Analysis, DNA
Steroid 21-Hydroxylase
