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.
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Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.X-Linked Sensorineural Hearing Loss: A Literature Review
P2860
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.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Functional characterization of ...... ture therapeutic intervention.
@en
type
label
Functional characterization of ...... ture therapeutic intervention.
@en
prefLabel
Functional characterization of ...... ture therapeutic intervention.
@en
P2093
P2860
P356
P1476
Functional characterization of ...... uture therapeutic intervention
@en
P2093
Ah Reum Kim
Byung Yoon Choi
Denise Yan
Eun-Hee Jeon
Jin Hee Han
Min Young Kim
Nayoung K D Kim
Rahul Mittal
So Young Kim
P2860
P304
P356
10.1002/JGM.2935
P577
2016-11-01T00:00:00Z