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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Ieda, Daisuke, Hori, Ikumi, Nakamura, Yuji, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Arisaka, Atsuko, Hasegawa, Setsuko, Saitoh, Shinji
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2019
Pynciau:
Data Report
Mynediad Ar-lein: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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