Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene
Abstract Background CHKB mutations have been described in 49 patients with megaconial congenital muscular dystrophy, which is a rare autosomal recessive disorder, of which 40 patients showed homozygosity. Methods Peripheral blood genomic DNA samples were extracted from patients and their parents and...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wiley
2023-07-01
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| Edice: | Molecular Genetics & Genomic Medicine |
| Témata: | |
| On-line přístup: | https://doi.org/10.1002/mgg3.2162 |
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