首页> European journal of human genetics : EJHG> The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

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

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第一作者： Michela,Robusto

第一单位： Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy.

作者： Michela,Robusto ^[1] ; Mingyan,Fang ^[2] ; Rosanna,Asselta ^[1] ; Pierangela,Castorina ^[3] ; Stefano C,Previtali ^[4] ; Sonia,Caccia ^[1] ; Elena,Benzoni ^[5] ; Raimondo,De Cristofaro ^[6] ; Cong,Yu ^[2] ; Antonio,Cesarani ^[3] ; Xuanzhu,Liu ^[2] ; Wangsheng,Li ^[2] ; Paola,Primignani ^[5] ; Umberto,Ambrosetti ^[3] ; Xun,Xu ^[2] ; Stefano,Duga ^[1] ; Giulia,Soldà ^[1]

作者单位： Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy. ^[1] BGI-Shenzhen, Shenzhen, China. ^[2] Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UO Audiologia, Milan, Italy. ^[3] Division of Neuroscience, Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy. ^[4] Laboratory of Medical Genetics, Molecular Genetic Sector, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy. ^[5] Haemostasis Research Center, Institute of Internal Medicine and Geriatrics, Catholic University School of Medicine, Rome, Italy. ^[6]