A new insight into PMM2 mutations in the French population
A new insight into PMM2 mutations in the French population
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Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title
Language
English
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Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Scope and Contents
Contents
Congenital disorder of Glycosylation type Ia is an autosomal recessive disorder, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N‐glycosylation and phosphomannomutase (PMM) deficiency related to mutations in the PMM2 gene (mRNA U85773.1, gene ID 5373). More than 75 different mutations have bee...
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Full title
A new insight into PMM2 mutations in the French population
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TN_cdi_proquest_miscellaneous_67780836
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67780836
Other Identifiers
ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.9336
