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Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene
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 were t...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337282/ https://www.ncbi.nlm.nih.gov/pubmed/36896673 http://dx.doi.org/10.1002/mgg3.2162 |