Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
about
Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.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.Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.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
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P2860
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին 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
Expanding the phenotype of PRP ...... hearing loss and retinopathy.
@ast
Expanding the phenotype of PRP ...... hearing loss and retinopathy.
@en
Expanding the phenotype of PRP ...... hearing loss and retinopathy.
@nl
type
label
Expanding the phenotype of PRP ...... hearing loss and retinopathy.
@ast
Expanding the phenotype of PRP ...... hearing loss and retinopathy.
@en
Expanding the phenotype of PRP ...... hearing loss and retinopathy.
@nl
prefLabel
Expanding the phenotype of PRP ...... hearing loss and retinopathy.
@ast
Expanding the phenotype of PRP ...... hearing loss and retinopathy.
@en
Expanding the phenotype of PRP ...... hearing loss and retinopathy.
@nl
P2093
P2860
P50
P1476
Expanding the phenotype of PRP ...... hearing loss and retinopathy.
@en
P2093
Berta Almoguera
Blanca García-Sandoval
Brendan Keating
Fiona Blanco-Kelly
Hakon Hakonarson
Javier Del Val
Juan G Puig
Lifeng Tian
Liping Guan
Maria Isabel López-Molina
P2860
P2888
P356
10.1186/S13023-014-0190-9
P577
2014-12-10T00:00:00Z
P5875
P6179
1043573590