De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
about
Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystoniaCongenital isolated Iso-Kikuchi syndrome in a newborn.Deficiency of ATP6V1H Causes Bone Loss by Inhibiting Bone Resorption and Bone Formation through the TGF-β1 Pathway.Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
P2860
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P2860
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
De novo mutation in ATP6V1B2 i ...... ness-onychodystrophy syndrome.
@en
De novo mutation in ATP6V1B2 i ...... ness-onychodystrophy syndrome.
@nl
type
label
De novo mutation in ATP6V1B2 i ...... ness-onychodystrophy syndrome.
@en
De novo mutation in ATP6V1B2 i ...... ness-onychodystrophy syndrome.
@nl
prefLabel
De novo mutation in ATP6V1B2 i ...... ness-onychodystrophy syndrome.
@en
De novo mutation in ATP6V1B2 i ...... ness-onychodystrophy syndrome.
@nl
P2093
P2860
P356
P1433
P1476
De novo mutation in ATP6V1B2 i ...... fness-onychodystrophy syndrome
@en
P2093
Binfei Zhou
Dongyi Han
Huijun Yuan
Jianjun Wang
Jingqiao Lu
P2860
P2888
P304
P356
10.1038/CR.2014.77
P577
2014-06-10T00:00:00Z
P5875
P6179
1050757455