TY  - GEN
AU  - Metherell,Louise A
AU  - Cooray,Sadani
AU  - Huebner,Angela
AU  - Ruschendorf,Franz
AU  - Naville,Danielle
AU  - Begeot,Martine
AU  - Clark,Adrian J L
TI  - Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2
SN  - 0743-5800
PY  - 2005///0610
KW  - Adenine
KW  - Chromosomes, Human, Pair 21
KW  - Glucocorticoids
KW  - deficiency
KW  - Guanine
KW  - Homozygote
KW  - Humans
KW  - Introns
KW  - Mutation
KW  - Protein Transport
KW  - genetics
KW  - Steroid Metabolism, Inborn Errors
KW  - Thymine
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1081/erc-200044136
ER  -