About: Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population

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About: Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population Goto Sponge NotDistinct Permalink

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scientific article published on 15 August 2006

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2006 (fr) наукова стаття, опублікована в серпні 2006 (uk) im August 2006 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 15 August 2006 (en) artículu científicu espublizáu n'agostu de 2006 (ast)
publication date	wds:Q80121642-FD5EE8C6-DC24-47EB-855C-67247CC37615
publication date	2006-08-15 00:00:00Z (xsd:dateTime)
author name string	wds:Q80121642-2C38F290-9699-4C1A-A6FE-1D1DDAA3CC3A wds:Q80121642-6F883CE4-DA8B-40F4-BE30-CA67E77FEDE8 wds:Q80121642-BA1A3AD6-5D99-4AFE-9990-E6CE4D58E1A4
author name string	Huan-Wen Chen Hwei-Wen Chao Lee-Tzong Yann
rdfs:label	Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population (en) Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population (nl)
skos:prefLabel	Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population (en) Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population (nl)
name	Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population (en) Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population (nl)
author	wds:Q80121642-351D11A1-2910-4D72-A007-8F5C32953195 wds:Q80121642-3A7DFA4E-3DC1-49E1-A1CA-39E93F900D03
author	Keh-Sung Tsai Wei-Yih Chiu
title	wds:Q80121642-F6E5639E-8336-456D-9992-5D2E0614C469
title	Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population (en)
page(s)	wds:Q80121642-E4A07AAE-2065-476C-8CA3-23917276D8EA
page(s)	4587-4592
instance of	wds:Q80121642-01857053-3121-4591-B015-A9B684B59508
instance of	scholarly article
main subject	wds:Q80121642-AABFBF8F-B3E2-409A-BA91-75CA24C385B8 wds:Q80121642-B06133E9-60E6-4748-92AB-6ECE98834F0E
main subject	hypoparathyroidism deafness
PubMed ID	wds:Q80121642-CCD77281-6B17-4D80-867B-742F8F0B4D85
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/16912130
PubMed ID	16912130
published in	wds:Q80121642-ABF0BF5D-B56F-436B-B918-808DB68E1691
published in	The Journal of Clinical Endocrinology and Metabolism
issue	wds:Q80121642-527E1551-482B-40A6-B596-ACA2978D2AF1
volume	wds:Q80121642-2C027A3E-471A-45B7-9572-10EA62C0C9DF
issue	11
volume	91
DOI	wds:Q80121642-1A172F2B-E5A6-4345-8B17-3B37923EC730
DOI	http://dx.doi.org/10.1210/JC.2006-0864
DOI	10.1210/JC.2006-0864
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q80121642
is cites work of	HDR syndrome: a novel "de novo" mutation in GATA3 gene Role of the GATA family of transcription factors in endocrine development, function, and disease Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome. Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding. Novel dominant-negative mutant of GATA3 in HDR syndrome. Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region. Novel splice site mutation in GATA3 in a patient with HDR syndrome
is cites work of	wds:Q37711664-4B524D65-A12D-47AA-BFDF-4E24D0FA3E17 wds:Q33610063-40CF22BE-4983-48A7-9C19-E612B607D2AF wds:Q36512426-B99E84ED-081B-49A9-9229-C9D6AC4D5C96 wds:Q24315737-8B826CF1-22D0-46CA-9B37-734384909142 wds:Q35419786-39B0FD8A-7D76-47D6-9FCB-7B7012B2C974 wds:Q41196711-ED073E08-E530-4D7C-ADB2-297B85DBC920 wds:Q50358207-67E70B8C-8528-4037-AEAF-69043677AFCD wds:Q35826632-516CABD1-F230-4A43-BD1F-058515F5C02B wds:Q42281611-8176AC4A-1F3C-4536-80D3-D369DC298F95 wds:Q50435707-1E33DB4C-D304-4F6C-AE0B-CAE97FDDA820

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