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Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity

✍ Scribed by M. Hiraoka; D. M. Berinstein; M. T. Trese; B. S. Shastry

Book ID: 106252708
Publisher: Nature Publishing Group
Year: 2001
Tongue: English
Weight: 499 KB
Volume: 46
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380170085

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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