About: A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

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About: A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa Goto Sponge NotDistinct Permalink

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scientific article published on 01 October 1998

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в жовтні 1998 (uk) article scientifique publié en 1998 (fr) im Oktober 1998 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'ochobre de 1998 (ast) scientific article published on 01 October 1998 (en)
publication date	wds:Q77806988-073AA919-62F4-47EF-A6A1-F994C711017C
publication date	1998-10-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q77806988-3FCDD91B-1E2A-4D6F-B05F-5D845EA7BDC6
language of work or name	English
author name string	wds:Q77806988-0D3D612A-DA33-4530-ADC4-BC08ECD2492E wds:Q77806988-3CB9E9ED-3FA9-42EC-92C0-035DFF6D8AFE wds:Q77806988-43ADE498-DE3B-4A22-9420-6C937CF32854 wds:Q77806988-47702117-185C-4059-81D8-50159887E0BD wds:Q77806988-5CDE763C-91AA-408F-8512-6168390A482E wds:Q77806988-6D9A5AB9-907E-4A9B-8672-DE143747E0F2 wds:Q77806988-8C5B6363-24FC-437B-B241-BF2092FF517E
author name string	R A Eady J E Mellerio H Horn M J Tidman G H Ashton J C Salas-Alanis M L Talamantes
rdfs:label	A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa (en) A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa (nl)
skos:prefLabel	A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa (en) A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa (nl)
name	A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa (en) A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa (nl)
author	wds:Q77806988-8067F86E-66DB-4654-8DF3-38A19D763FEE
author	John Mcgrath
title	wds:Q77806988-8A39C604-7A02-4B30-A2B3-C3B6C968ACC7
title	A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa (en)
page(s)	wds:Q77806988-0E48AC2F-FF9E-44A6-8807-78FB2E4D6693
page(s)	730-737
instance of	wds:Q77806988-B4C899CD-A4B1-4E88-98E9-98617D851A59
instance of	scholarly article
main subject	wds:Q77806988-1F367D7D-5FA6-46E2-836C-395A69B3CE75
main subject	dominant dystrophic epidermolysis bullosa
PubMed ID	wds:Q77806988-93E292A3-D134-41C9-AC92-1EBF61D83E07
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9892921
PubMed ID	9892921
published in	wds:Q77806988-86DF65B6-BD82-498D-820E-39F30D0584CC
published in	British Journal of Dermatology
issue	wds:Q77806988-3620B607-1A69-481C-8A5C-03AB46F6F96B
volume	wds:Q77806988-88DB0173-A597-4323-88A0-CE5FAA7D1F5B
issue	4
volume	139
DOI	wds:Q77806988-3AAC2DFF-333E-469A-A19B-60D04BC83C51
DOI	http://dx.doi.org/10.1046/J.1365-2133.1998.02496.X
DOI	10.1046/J.1365-2133.1998.02496.X
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q77806988
is cites work of	Dystrophic epidermolysis bullosa: a review The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa COL7A1 mutation G2037E causes epidermal retention of type VII collagen.
is cites work of	wds:Q28084871-949B929D-7A96-4DA1-975F-82115AAFED9B wds:Q74200083-016FB29F-EA5A-4063-A713-D2DBB2E18016 wds:Q44654984-233F006D-59B6-4718-ACA5-C5B1E5120964 wds:Q51813890-D17B022C-3FB2-4D54-8D7A-7B102E835733 wds:Q42605404-33E0E630-63B2-4E66-9C42-8C5978FB6257 wds:Q24648149-A26DCD3D-4F4D-4D2E-9DA2-CB27D5A4C0FC

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