A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.
about
An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological diseaseGenetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.SLC9/NHE gene family, a plasma membrane and organellar family of Na⁺/H⁺ exchangersA Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell deathFunctional evaluation of autism-associated mutations in NHE9.Pathophysiology of Intestinal Na+/H+ exchange.Traditional and emerging roles for the SLC9 Na+/H+ exchangers.Endosomal pH in neuronal signaling and synaptic transmission: role of Na(+)/H(+) exchanger NHE5.Emerging roles of Na⁺/H⁺ exchangers in epilepsy and developmental brain disorders.A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome
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P2860
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.
description
2011 nî lūn-bûn
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name
A loss-of-function mutation in ...... resembling Angelman syndrome.
@en
A loss-of-function mutation in ...... resembling Angelman syndrome.
@nl
type
label
A loss-of-function mutation in ...... resembling Angelman syndrome.
@en
A loss-of-function mutation in ...... resembling Angelman syndrome.
@nl
prefLabel
A loss-of-function mutation in ...... resembling Angelman syndrome.
@en
A loss-of-function mutation in ...... resembling Angelman syndrome.
@nl
P2093
P2860
P356
P1476
A loss-of-function mutation in ...... resembling Angelman syndrome.
@en
P2093
Hiroshi Kanazawa
Kana Hosoki
Kayoko Saito
Makoto Funatsuka
Masafumi Matsushita
Yu-Ichi Goto
Yumi Takahashi
P2860
P304
P356
10.1002/AJMG.B.31221
P577
2011-08-02T00:00:00Z