KEGG   VARIANT: 2690v1
Entry
2690v1                      Variant                                

Name
GHR mutation
Gene
GHR  growth hormone receptor [KO:K05080]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138090
Reference
PMID:9360529
  Authors
Kaji H, Nose O, Tajiri H, Takahashi Y, Iida K, Takahashi T, Okimura Y, Abe H, Chihara K
  Title
Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome.
  Journal
J Clin Endocrinol Metab 82:3705-9 (1997)
DOI:10.1210/jcem.82.11.4344
Reference
PMID:9661642
  Authors
Walker JL, Crock PA, Behncken SN, Rowlinson SW, Nicholson LM, Boulton TJ, Waters MJ
  Title
A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing  hormone analogue.
  Journal
J Clin Endocrinol Metab 83:2554-61 (1998)
DOI:10.1210/jcem.83.7.4954
LinkDB

DBGET integrated database retrieval system