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Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia

✍ Scribed by Hiroaki Ono; Nobuo Sakura; Katsuko Yamashita; Isao Yuasa; Kousaku Ohno

Book ID: 114249004
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 123 KB
Volume: 25
Category: Article
ISSN: 0387-7604
DOI: 10.1016/s0387-7604(03)00063-9

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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