Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.
about
Molecular cloning of beta 3 subunit, a third form of the G protein beta-subunit polypeptideParathyroid hormone is essential for normal fetal bone formationMutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidismGcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordiaCongenital bronchial atresia with regional emphysema associated with pectus excavatumLocalisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.Primary structure of bovine pituitary secretory protein I (chromogranin A) deduced from the cDNA sequence.A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic featuresFamilial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperoneExome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
P2860
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P2860
Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.
description
1986 nî lūn-bûn
@nan
1986 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի մարտին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
Familial isolated hypoparathyr ...... lies with 23 affected persons.
@ast
Familial isolated hypoparathyr ...... lies with 23 affected persons.
@en
Familial isolated hypoparathyr ...... lies with 23 affected persons.
@nl
type
label
Familial isolated hypoparathyr ...... lies with 23 affected persons.
@ast
Familial isolated hypoparathyr ...... lies with 23 affected persons.
@en
Familial isolated hypoparathyr ...... lies with 23 affected persons.
@nl
prefLabel
Familial isolated hypoparathyr ...... lies with 23 affected persons.
@ast
Familial isolated hypoparathyr ...... lies with 23 affected persons.
@en
Familial isolated hypoparathyr ...... lies with 23 affected persons.
@nl
P2093
P1433
P1476
Familial isolated hypoparathyr ...... ilies with 23 affected persons
@en
P2093
Antonarakis SE
Igarashi T
Kronenberg HM
P407
P577
1986-03-01T00:00:00Z