chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Homo sapiens]

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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. [Hum Mutat. 2020]
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, et al. Hum Mutat. 2020 Mar; 41(3):655-667. Epub 2019 Dec 3.
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia. [Bone. 2019]
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M. Bone. 2019 Oct; 127:446-451. Epub 2019 Jul 17.
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. [Mol Genet Metab Rep. 2015]
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M, Venturini M, Calzavara-Pinton P, Colombi M. Mol Genet Metab Rep. 2015 Mar; 2:1-15. Epub 2014 Nov 20.

RefSeq mRNA
See reference mRNA sequence for the CSGALNACT1 gene (NM_018371.5).
RefSeq protein isoforms
See 85 reference sequence protein isoforms for the CSGALNACT1 gene.

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NP_060841 [Domain Mapping of Disease Mut...]
NP_060841
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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reagents
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