isolated growth hormone deficiency type II

isolated growth hormone deficiency type II

Item
http://www.wikidata.org/entity/Q32136630
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference.A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.Mutant and misfolded human growth hormone is rapidly degraded through the proteasomal degradation pathway in a cellular model for isolated growth hormone deficiency type II.Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.Isolated growth hormone deficiency, type II (sexual ateleiosis, type II)An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type IIA novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian populationA novel GH1 mutation in a family with isolated growth hormone deficiency type II
P921

isolated growth hormone deficiency type II

Item
http://www.wikidata.org/entity/Q32136630
description
human disease
@en
name
isolated growth hormone deficiency type II
@en
type
label
isolated growth hormone deficiency type II
@en
altLabel
IGHD II
@en
autosomal dominant isolated growth hormone deficiency
@en
autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency
@en
congenital IGHD type II
@en
congenital isolated GH deficiency type II
@en
congenital isolated growth hormone deficiency type II
@en
prefLabel
isolated growth hormone deficiency type II
@en
P1550
P279
P2888
P31
P4229
P492
P699
P1550
P279
P2888
P31
P4229
P492
P699