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.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941618 | PMC |
http://dx.doi.org/10.1016/j.ymgme.2007.02.011 | DOI Listing |
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