Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.

Metherell, Louise A

Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2. [electronic resource] - Endocrine research Nov 2004 - 889-90 p. digital

Publication Type: Journal Article

0743-5800

10.1081/erc-200044136 doi


Adenine
Chromosomes, Human, Pair 21
Glucocorticoids--deficiency
Guanine
Homozygote
Humans
Introns
Mutation
Protein Transport--genetics
Steroid Metabolism, Inborn Errors--genetics
Thymine