KEGG   VARIANT: 2688v1
Entry
2688v1                      Variant                                

Name
GH1 mutation
Gene
GH1  growth hormone 1 [KO:K05438]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 139250
Reference
  Authors
Mullis PE
  Title
Genetics of isolated growth hormone deficiency.
  Journal
J Clin Res Pediatr Endocrinol 2:52-62 (2010)
DOI:10.4274/jcrpe.v2i2.52
Reference
PMID:9276733
  Authors
Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J, Kaji H, Okimura Y, Abe H, Tanaka T, Chihara K
  Title
Biologically inactive growth hormone caused by an amino acid substitution.
  Journal
J Clin Invest 100:1159-65 (1997)
DOI:10.1172/JCI119627
Reference
  Authors
Besson A, Salemi S, Deladoey J, Vuissoz JM, Eble A, Bidlingmaier M, Burgi S, Honegger U, Fluck C, Mullis PE
  Title
Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).
  Journal
J Clin Endocrinol Metab 90:2493-9 (2005)
DOI:10.1210/jc.2004-1838
Reference
  Authors
Abdul-Latif H, Leiberman E, Brown MR, Carmi R, Parks JS
  Title
Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene.
  Journal
J Pediatr Endocrinol Metab 13:21-8 (2000)
DOI:10.1515/jpem.2000.13.1.21
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