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  • Charcot Marie Tooth disease
  • Phosphoribosylpyrophosphate synthetase
  • Arts syndrome
  • Deafness (Inherited)
  • Connexin43
  • Connexin26
  • Oculodentodigital dysplasia
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    12010PRPS1 mutations: four distinct syndromes and potential treatment.



    		+-nlAm J Hum Genet 86(4):506-18 (2010)
    22008Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.



    		+-nlJ Biol Chem 283(6):2997-3001 (2008)



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