Association ofPRPS1Mutations with Disease Phenotypes

Analysis of miR-376 RNA cluster members in the mouse inner ear

(2015) Denise Yan et al.   INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

(2014) Almundher Al-Maawali et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

(2014) Michela Robusto et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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 mutation

(2014) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

A small disturbance, but a serious disease: The possible mechanism of D52H-mutant of human PRS1 that causes gout

(2013) Peng Chen et al.   IUBMB LIFE

Exome Sequencing Reveals a NovelPRPS1Mutation in a Family with CMTX5 without Optic Atrophy

(2013) Jin Park et al.   Journal of Clinical Neurology

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I

(2012) Rocio Moran et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hearing loss andPRPS1mutations: Wide spectrum of phenotypes and potential therapy

(2012) Xue Zhong Liu et al.   INTERNATIONAL JOURNAL OF AUDIOLOGY

The PRPP Synthetase Spectrum: What Does it Demonstrate About Nucleotide Syndromes?

(2011) John A. Duley et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

(2010) Arjan P.M. de Brouwer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

(2009) Xuezhong Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS