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Mol Genet Metab. 2007 Jun;91(2):201-4. Epub 2007 Mar 28.

Molecular and clinical characterization of a Moroccan Cog7 deficient patient.

Author information

1
Department of Glycobiology and Carbohydrate Chemistry, Burnham Institute for Medical Research, La Jolla, CA 92037, USA.

Abstract

Mutations in the N-linked glycosylation pathway cause rare autosomal recessive defects known as Congenital Disorders of Glycosylation (CDG). A previously reported mutation in the Conserved Oligomeric Golgi complex gene, COG7, defined a new subtype of CDG in a Tunisian family. The mutation disrupted the hetero-octomeric COG complex and altered both N- and O-linked glycosylation. Here we present clinical and biochemical data from a second family with the same mutation.

PMID:
17395513
PMCID:
PMC1941618
DOI:
10.1016/j.ymgme.2007.02.011
[Indexed for MEDLINE]
Free PMC Article

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