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A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microcephaly, severe developmental delay, and intractable epilepsy. Functional analysis found...
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| Publicat a: | Hum Genome Var |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group UK
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6434044/ https://ncbi.nlm.nih.gov/pubmed/30937176 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0046-x |
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