About: Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa

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About: Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 01 April 1996

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у квітні 1996 (uk) article scientifique publié en 1996 (fr) im April 1996 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'abril de 1996 (ast) scientific article published on 01 April 1996 (en)
publication date	wds:Q71049556-4B8E6564-7BB3-4428-AAFD-D138A7C911F3
publication date	1996-04-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q71049556-5C625305-23AC-4E9C-B9F3-2CEBD2A5A3E3
language of work or name	English
exact match	wds:Q71049556-5AF90CB5-4940-48C9-A236-3C4611CDD15F
exact match	https://scigraph.springernature.com/pub.10.1111/1523-1747.ep12346246
author name string	wds:Q71049556-0FB76EC0-1F1F-454C-B825-C86F3BD436B9 wds:Q71049556-7325C9A0-E93E-41AD-8D11-50FCDD4A3DC7 wds:Q71049556-D02631E5-C9A1-4B82-AC58-552D03C8B221 wds:Q71049556-D69CAD08-C5EC-4006-80F1-52176404D9B9
author name string	R A Eady J Uitto L Pulkkinen A M Christiano
rdfs:label	Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa (en) Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa (nl)
skos:prefLabel	Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa (en) Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa (nl)
name	Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa (en) Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa (nl)
title	wds:Q71049556-F07ED736-110A-4F9C-A443-C013A58CB33D
title	Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa (en)
page(s)	wds:Q71049556-13272244-25CC-4226-8549-F91FF1D5A58D
page(s)	775-777
instance of	wds:Q71049556-FFEF508A-0826-40FD-B134-B45BFDAFAB77
instance of	scholarly article
main subject	wds:Q71049556-780A1D8F-D70C-49D2-90AA-2E108E9A3D0F wds:Q71049556-8D55CE52-DF72-43FF-AE33-0D4B63AAAF5A
main subject	junctional epidermolysis bullosa heterozygosity
PubMed ID	wds:Q71049556-944E2E80-C4D5-406E-B229-4CA3C16CFAD8
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8618020
PubMed ID	8618020
published in	wds:Q71049556-7806115A-951D-457E-AE9A-08CDCF392135
published in	Journal of Investigative Dermatology
issue	wds:Q71049556-F7220732-8FEB-4C9F-82E8-3ADB8C5392A9
volume	wds:Q71049556-BEB8040A-D173-4EF6-BD89-46E857423CF4
issue	4
volume	106
DOI	wds:Q71049556-D2F8FFDE-2646-4B5C-ACCB-65D1D8A6488D
DOI	http://dx.doi.org/10.1111/1523-1747.EP12346246
DOI	10.1111/1523-1747.EP12346246
Dimensions Publication ID	wds:Q71049556-C4798440-E173-4A68-B63F-AB3B987E78EA
Dimensions Publication ID	1042805572
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q71049556
is cites work of	Neuronal laminins and their cellular receptors IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival Msx2 controls ameloblast terminal differentiation. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes JSID Tanioku Memorial Lecture 1996. Genetic disorders of keratins and their associated proteins. Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?
is cites work of	wds:Q28592841-7EBD002B-0819-41AE-8BA9-A41177095787 wds:Q42443360-810DFAD6-5736-4AC4-ABE8-9E74009B35BF wds:Q41513899-4217BA3E-A4FC-48C4-97DD-7CE9A7085139 wds:Q48503973-0B5C8254-A8DF-41CE-8EF3-CDFF33E13B95 wds:Q41008423-9682B2B4-1FC6-47F2-B305-1E775EA488E5 wds:Q52086431-60C3CA2B-5BBA-40FF-A6D9-C809BF2850DA wds:Q24534377-9A383D2A-07E2-4D71-B404-A12D2B0C0241

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