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Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing
BACKGROUND: Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome biogenesis disorders are genetically heterogeneous...
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| Gepubliceerd in: | Mol Genet Genomic Med |
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| Hoofdauteurs: | , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
John Wiley and Sons Inc.
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6978261/ https://ncbi.nlm.nih.gov/pubmed/31724321 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1042 |
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