The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
about
Association of PRPS1 Mutations with Disease PhenotypesAdditive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.High expression of PRPS1 induces an anti-apoptotic effect in B-ALL cell lines and predicts an adverse prognosis in Chinese children with B-ALL.Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
P2860
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
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
name
The expanding spectrum of PRPS ...... nd mild peripheral neuropathy.
@ast
The expanding spectrum of PRPS ...... nd mild peripheral neuropathy.
@en
type
label
The expanding spectrum of PRPS ...... nd mild peripheral neuropathy.
@ast
The expanding spectrum of PRPS ...... nd mild peripheral neuropathy.
@en
prefLabel
The expanding spectrum of PRPS ...... nd mild peripheral neuropathy.
@ast
The expanding spectrum of PRPS ...... nd mild peripheral neuropathy.
@en
P2093
P2860
P50
P356
P1476
The expanding spectrum of PRPS ...... and mild peripheral neuropathy
@en
P2093
Antonio Cesarani
Elena Benzoni
Michela Robusto
Paola Primignani
Pierangela Castorina
Wangsheng Li
Xuanzhu Liu
P2860
P2888
P304
P356
10.1038/EJHG.2014.168
P50
P577
2014-09-03T00:00:00Z