KEGG VARIANT: 7355v1

VARIANT: 7355v1

Entry

7355v1                      Variant

Name

SLC35A2 mutation

Type

Loss of function

Gene

SLC35A2 solute carrier family 35 member A2 [KO:K15272]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 314375

Network

nt06015 N-Glycan biosynthesis

Disease

H00119

Congenital disorders of glycosylation type II

Reference

PMID:23561849

Authors

Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH

Title

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

Journal

Am J Hum Genet 92:632-6 (2013)
DOI:10.1016/j.ajhg.2013.03.012

LinkDB

DBGET integrated database retrieval system