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

Hereditary Hearing Loss and its Syndromes

Journal of Medical Genetics · 1995 · 512 citations · Full text

Medicine, Genetics, Otolaryngology +12

Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene <i>POU3F4</i>

Yvette J.M. de Kok, Silvère M. van der Maarel, Maria Bitner‐Glindzicz et al. · Science · 1995 · 449 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Hee‐Jin Kim, Kwang-Min Sohn, Michael E. Shy et al. · The American Journal of Human Genetics · 2007 · 155 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Essential role of retinoblastoma protein in mammalian hair cell development and hearing

Cyrille Sage, Mingqian Huang, Melissa A. Vollrath et al. · Proceedings of the National Academy of Sciences · 2006 · 136 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.

E. Zoref, André de Vries, Oded Sperling · Journal of Clinical Investigation · 1975 · 135 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16