Reactome | Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

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Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders Show undefined attributes

author	[Person:4420333] Nakajima, M [Person:3621765] Mizumoto, S [Person:3621832] Miyake, N [Person:4420326] Kogawa, R [Person:3621708] Iida, A [Person:4420319] Ito, H [Person:4420339] Kitoh, H [Person:4420335] Hirayama, A [Person:4420343] Mitsubuchi, H [Person:4420347] Miyazaki, O [Person:4420369] Kosaki, R [Person:4420329] Horikawa, R [Person:4420336] Lai, A [Person:3636798] Mendoza-Londono, R [Person:4420355] Dupuis, L [Person:2453884] Chitayat, D [Person:4420359] Howard, A [Person:4420342] Leal, GF [Person:4420340] Cavalcanti, D [Person:3636911] Tsurusaki, Y [Person:3636874] Saitsu, H [Person:4420352] Watanabe, S [Person:3636848] Lausch, E [Person:2426257] Unger, S [Person:2426322] Bonafe, L [Person:3621754] Ohashi, H [Person:3621721] Superti-Furga, A [Person:3621829] Matsumoto, N [Person:3621793] Sugahara, K [Person:2426305] Nishimura, G [Person:3621841] Ikegawa, S
created	[InstanceEdit:4420338] Jassal, B, 2013-09-03
dbId	4420321
displayName	Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
journal	Am. J. Hum. Genet.
modified	[InstanceEdit:5364052] D'Eustachio, Peter, 2014-04-19
pubMedIdentifier	23664117
schemaClass	LiteratureReference
title	Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
url	http://www.ncbi.nlm.nih.gov/pubmed/23664117
year	2013

Referrals

(literatureReference)

[Pathway:R-HSA-4420332] Defective B3GALT6 causes EDSP2 and SEMDJL1
[FailedReaction:R-HSA-4420365] Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker

(author)

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