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A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease
Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. Among the wide range of disease-causing mutations in BCKDHB, only one large deletion has been associated with MSUD. Compound heterozygous mutations i...
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| הוצא לאור ב: | Front Genet |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Frontiers Media S.A.
2018
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5928131/ https://ncbi.nlm.nih.gov/pubmed/29740478 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00145 |
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