VARIANT: 55790v1
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Entry
55790v1 Variant
Name
CSGALNACT1 mutation
Gene
CSGALNACT1
chondroitin sulfate N-acetylgalactosaminyltransferase 1 [KO:
K00746
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
616615
Network
nt06029
Glycosaminoglycan biosynthesis
Disease
H02551
Skeletal dysplasia with joint laxity and advanced bone age
Reference
PMID:
27599773
Authors
Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N, Costantini R, Seidl R, Greber-Platzer S, Yamada S, Muller T, Jilma B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K, Janecke AR
Title
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
Journal
Hum Mutat 38:34-38 (2017)
DOI:
10.1002/humu.23070
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