טוען...
Phenotypic variation between siblings with Metachromatic Leukodystrophy
BACKGROUND: Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype-phenotype correlation is only partly understood, and the variability of the...
שמור ב:
| הוצא לאור ב: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2019
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6560893/ https://ncbi.nlm.nih.gov/pubmed/31186049 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1113-6 |
| תגים: |
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