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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Hum Genome Var
Main Authors: Ieda, Daisuke, Hori, Ikumi, Nakamura, Yuji, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Arisaka, Atsuko, Hasegawa, Setsuko, Saitoh, Shinji
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2019
Assuntos:
Data Report
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares