Entry |
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Name |
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Gene |
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Organism |
hsa_var Human gene variants (Homo sapiens)
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Variation |
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Network |
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Disease |
H02035 | Isolated growth hormone deficiency |
|
Reference |
|
Authors |
Mullis PE |
Title |
Genetics of isolated growth hormone deficiency. |
Journal |
|
Reference |
|
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 |
|
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 |
|
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 |
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LinkDB |
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