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Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients
Globoid-cell leukodystrophy is an autosomal-recessive lysosomal storage disorder. Single-base substitutions and small indel mutations in the GALC gene are common in Japanese patients. In this study, we identified three novel deletions, in exons 1, 8, and 11–12, in three patients using Multiplex Liga...
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| Publicado no: | Hum Genome Var |
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| Principais autores: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6173723/ https://ncbi.nlm.nih.gov/pubmed/30323943 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0027-5 |
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