Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease caused by biallelic mutations in IDUA, the gene coding for the lysosomal enzyme alpha L-iduronidase. Clinically MPS I is a chronic progressive multisystem disease typically presenting with coarse facial features, skeletal defor...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Metab Rep
Asıl Yazarlar: Katja, Kloth, Inga, Vater, Ramona, Lindschau, Almuth, Caliebe, Maria, Muschol Nicole
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2020
Konular:
Research Paper
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7582098/
https://ncbi.nlm.nih.gov/pubmed/33117653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100660
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