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Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans

✍ Scribed by Donna Durham-Pierre; Richard A. King; John M. Naber; Steve Laken; Murray H. Brilliant


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
303 KB
Volume
7
Category
Article
ISSN
1059-7794

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## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders with multisystemic involvement characterized by abnormalities in the synthesis of N‐linked oligosaccharides. The most common form, CDG‐Ia, resulting from mutations in the gene encoding the enzyme phosphomanno