KEGG   VARIANT: 2692v1
Entry
2692v1                      Variant                                

Name
GHRHR mutation
Gene
GHRHR  growth hormone releasing hormone receptor [KO:K04584]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 139191
Reference
  Authors
Wajnrajch MP, Gertner JM, Sokoloff AS, Ten I, Harbison MD, Netchine I, Maheshwari HG, Goldstein DB, Amselem S, Baumann G, Leibel RL
  Title
Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor.
  Journal
Am J Med Genet A 120A:77-83 (2003)
DOI:10.1002/ajmg.a.10209
Reference
  Authors
Salvatori R, Fan X, Phillips JA 3rd, Espigares-Martin R, Martin De Lara I, Freeman KL, Plotnick L, Al-Ashwal A, Levine MA
  Title
Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.
  Journal
J Clin Endocrinol Metab 86:273-9 (2001)
DOI:10.1210/jcem.86.1.7156
LinkDB

DBGET integrated database retrieval system