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A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report
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 a phosph...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552460/ https://www.ncbi.nlm.nih.gov/pubmed/36221102 http://dx.doi.org/10.1186/s13052-022-01355-x |