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Two novel mutations of PEX6 in one Chinese Zellweger spectrum disorder and their clinical characteristics
BACKGROUND: Zellweger spectrum disorder (ZSD) is an autosomal recessive peroxisome biogenesis disorder (PBD) caused by bi-allelic mutations in any of the 13 PEX family genes. METHODS: We reported a Chinese PBD-ZSD patient with compound heterozygous mutations of PEX6 detected by target sequencing and...
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| Vydáno v: | Ann Transl Med |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
AME Publishing Company
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6736815/ https://ncbi.nlm.nih.gov/pubmed/31555682 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.06.42 |
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