About: BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy

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About: BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	Item
description	article (en) հոդված (hy) artículu científicu (ast) wetenschappelijk artikel (nl) наукова стаття, опублікована в листопаді 2001 (uk) مقالة علمية تنشرت ف 1 نونبر 2001 (ary) im November 2001 veröffentlichter wissenschaftlicher Artikel (de) article scientifique publié en novembre 2001 (fr)
publication date	wds:Q57215561-CE06CD3C-B5C8-4B79-BE10-83870C42ED95
publication date	2001-11-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57215561-729F9B64-C09F-4C49-8C9E-02A61C582ED8
language of work or name	English
author name string	wds:Q57215561-10843BD0-BCCE-412C-B1D1-9309573B8466 wds:Q57215561-2948E00C-A231-4651-8021-C73EE7283CFC wds:Q57215561-AD6540D2-0104-4608-97FC-19E7C2427799 wds:Q57215561-B68C9DD6-CE8B-4D15-B8B4-463B2E75EDC4 wds:Q57215561-CA13C1B4-0424-40D1-8570-922DC9D10494
author name string	E K Kim H S Kim C K Joo S K Yoon B J Cho
rdfs:label	BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy (en) BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy (nl)
skos:prefLabel	BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy (en) BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy (nl)
name	BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy (en) BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy (nl)
title	wds:Q57215561-90D5ACE5-479D-4DE6-A778-BD6D5ECDA2BE
title	BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy (en)
page(s)	wds:Q57215561-22E343F0-A857-4B2F-A28D-2786519832A4
page(s)	844-849
instance of	wds:Q57215561-969ADA0D-00AA-47DF-8576-153100E0C070
instance of	scholarly article
main subject	wds:Q57215561-EDB9BF88-20AC-409A-B27C-A04A1CCCE09C
main subject	corneal dystrophy
PubMed ID	wds:Q57215561-92F7D115-1C91-41F8-86DA-20EABB7BBA32
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11685063
PubMed ID	11685063
published in	wds:Q57215561-0203632F-C6A1-4AF6-85D1-FA449ABA71E1
published in	Cornea
issue	wds:Q57215561-FA2628C2-F17B-4BDE-972A-0F2CC7E52A2B
volume	wds:Q57215561-76DA9BC1-CE6A-49EC-A068-54AC7DCE534B
issue	8
volume	20
number of pages	wds:Q57215561-6285526D-A0C7-4250-859C-B9D12D7E0DA2
number of pages	6 (xsd:decimal)
DOI	wds:Q57215561-A86C7360-3CC2-4AB5-B7EA-E530BF66EE2C
DOI	http://dx.doi.org/10.1097/00003226-200111000-00013
DOI	10.1097/00003226-200111000-00013
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57215561
is cites work of	TGFBI gene mutations in corneal dystrophies. TGFBI gene mutations in Brazilian patients with corneal dystrophy. Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan. Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene Phenotypic non-penetrance in granular corneal dystrophy type II. Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair. Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI. Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3.
is cites work of	wds:Q33980596-B1B36F47-8FE1-44C4-9174-1D74C53630CB wds:Q35591115-35F39607-C699-4C85-AF26-771CD35E11DB wds:Q36744471-EEEC0717-2E08-4D09-90C5-9D037A6F4CAF wds:Q47108359-5D62A399-2944-4FB9-946D-9508B987DA20 wds:Q35924148-6341DE85-A0CC-44FA-8CCC-2B9D3C802182 wds:Q54620548-C37645E8-8AAF-4C91-96E6-30AB26EE833E wds:Q35332114-2E778D00-C0CE-453F-A292-273759069B7E wds:Q46610418-77C9CD22-B6E0-46BF-A466-CEE1227AE71B wds:Q34166110-454B7705-C9CE-47F9-8A20-918FD73A20B1 wds:Q42124546-AD3378B7-8CF5-468D-B7EF-E48DA6083AFA wds:Q36472661-6029D345-BCF3-40B1-A643-B5D73B111BF4 wds:Q35171851-74AED241-CA77-4D05-9903-E3CC185AA1A1 wds:Q79816600-4CFAD6B8-05EC-45E1-A80A-F91FC6D04FCC

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