Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

BackgroundATP1A3 encodes the α3 subunit of the Na+/K+ ATPase, a fundamental ion-transporting enzyme. Primarily expressed in neurons, ATP1A3 is mutated in several autosomal dominant neurological diseases. To our knowledge, damaging recessive genotypes in ATP1A3 have never been associated with any hum...

Cijeli opis

Bibliografski detalji

Glavni autori:	August A. Allocco, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Richard P. Lifton, Kristopher T. Kahle
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2019-09-01
Serija:	Frontiers in Cellular Neuroscience
Teme:	congenital hydrocephalus ATP1A3 Na+/K+ ATPase whole exome sequencing genetics
Online pristup:	https://www.frontiersin.org/article/10.3389/fncel.2019.00425/full
Oznake:	Dodaj oznaku Bez oznaka, Budi prvi tko označuje ovaj zapis!