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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

01/01/1997

Pubmed ID

9067760

DOI

10.1002/(SICI)1098-1004(1997)9:2<181::AID-HUMU12>3.0.CO;2-Z

Scopus ID

2-s2.0-0030893822   12 Citations

Author List

Kirby-Keyser L, Porter CC, Donohoue PA

Authors

Patricia A. Donohoue MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin
Craig C. Porter MD Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adrenal Hyperplasia, Congenital
Blotting, Southern
Exons
HLA Antigens
Homozygote
Humans
Pedigree
Point Mutation
Polymerase Chain Reaction
Restriction Mapping
Sequence Analysis, DNA
Steroid 21-Hydroxylase