Condition: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
rs587781262 in
PRPS1 gene and
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
PMID 25182139 2015 The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
PMID 17701900 2007 The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5.
PMID 17701900 2007 The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5.