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Type 2 Gaucher Disease in an Infant Despite a Normal Maternal Glucocerebrosidase gene
Gaucher disease (GD) is a recessively inherited autosomal lysosomal storage disease, the most severe of which is type 2, an acute neuronopathic form. We report an affected infant who inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his father, while the second, Gly202Arg (c.721...
Gorde:
| Argitaratua izan da: | Am J Med Genet A |
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| Egile Nagusiak: | , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2017
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5787391/ https://ncbi.nlm.nih.gov/pubmed/29091352 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38487 |
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