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

European Journal of Human Genetics

Volumn 23, Issue 6, 2015, Pages 766-773

  Robusto, Michela ^a   Fang, Mingyan ^b   Asselta, Rosanna ^a   Castorina, Pierangela ^a   Previtali, Stefano C ^c   Caccia, Sonia ^a   Benzoni, Elena ^d   De Cristofaro, Raimondo ^e   Yu, Cong ^b   Cesarani, Antonio ^a   Liu, Xuanzhu ^b   Li, Wangsheng ^b   Primignani, Paola ^d   Ambrosetti, Umberto ^a   Xu, Xun ^b   Duga, Stefano ^a   Soldà, Giulia ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b BGI SHENZHEN   (China)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME; RIBOSEPHOSPHATE PYROPHOSPHOKINASE 1; UNCLASSIFIED DRUG; PRPS1 PROTEIN, HUMAN; RIBOSEPHOSPHATE PYROPHOSPHOKINASE;

ADULT; AGED; ARTICLE; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IN VIVO STUDY; MALE; MIDDLE AGED; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; VERY ELDERLY; X CHROMOSOME LINKED DISORDER; ADOLESCENT; ATAXIA; CHILD; DEAFBLINDNESS; GENETIC LINKAGE; GENETICS; MISSENSE MUTATION; PEDIGREE; X CHROMOSOME;

ADOLESCENT; ADULT; ATAXIA; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHROMOSOMES, HUMAN, X; DEAF-BLIND DISORDERS; DEAFNESS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC LINKAGE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; RIBOSE-PHOSPHATE PYROPHOSPHOKINASE;

EID: 84929249388     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.168     Document Type: Article

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