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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173723/ https://www.ncbi.nlm.nih.gov/pubmed/30323943 http://dx.doi.org/10.1038/s41439-018-0027-5 |