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A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report

Abstract Background Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal recessive transmission, is also the most frequent. The PMM2 gene encodes...

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主要な著者:	E. Lebredonchel (著者), A. Riquet (著者), D. Neut (著者), F. Broly (著者), G. Matthijs (著者), A. Klein (著者), F. Foulquier (著者)
フォーマット:	図書
出版事項:	BMC, 2022-10-01T00:00:00Z.
主題:	article
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