Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
about
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutationCrystal and EM structures of human phosphoribosyl pyrophosphate synthase I (PRS1) provide novel insights into the disease-associated mutationsA small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes goutAssociation of PRPS1 Mutations with Disease PhenotypesPhosphoribosyl Diphosphate (PRPP): Biosynthesis, Enzymology, Utilization, and Metabolic Significance.The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
P2860
Q21202844-43A260E9-953F-4D76-BB95-7D73FE87FF7AQ27311514-E2511127-8D64-409D-8756-0F701B2C5D11Q27684206-267D5204-6BC8-45D6-8CEC-AC3E392FC8D6Q28080625-3A6E203F-1505-4417-95FF-E2DEAB332817Q30396867-8D8209D2-B95C-4C47-8542-366E25511C34Q30397202-25C68F1C-7E6C-4440-8BD9-581E78DAC4E0Q34467709-8013F877-A5F1-45C5-9022-FE5584769631Q34748475-305CDE11-D4AC-48EE-8FB9-0377DFBED749Q35878664-097B325B-BD9A-4340-A8F4-F63AA53AADE1Q36347988-6F76D6DC-33E5-4527-8AE7-7649FA9DDBDCQ53143825-13F25507-519B-4144-9289-62960F9CE74D
P2860
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Phosphoribosylpyrophosphate sy ...... p.Val142Leu mutation in PRS-I.
@en
Phosphoribosylpyrophosphate sy ...... p.Val142Leu mutation in PRS-I.
@nl
type
label
Phosphoribosylpyrophosphate sy ...... p.Val142Leu mutation in PRS-I.
@en
Phosphoribosylpyrophosphate sy ...... p.Val142Leu mutation in PRS-I.
@nl
prefLabel
Phosphoribosylpyrophosphate sy ...... p.Val142Leu mutation in PRS-I.
@en
Phosphoribosylpyrophosphate sy ...... p.Val142Leu mutation in PRS-I.
@nl
P2093
P2860
P50
P356
P1476
Phosphoribosylpyrophosphate sy ...... p.Val142Leu mutation in PRS-I
@en
P2093
Aditia Retno-Fitri
André B P Kuilenburg
Arjan P M de Brouwer
Helger G Yntema
Jeroen Roelofsen
John Duley
Rocio Moran
Sander B Nabuurs
P2860
P304
P356
10.1002/AJMG.A.34428
P407
P577
2012-01-13T00:00:00Z