Associated Papers
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.
Lin P et al.
Journal of Human Genetics, 2018
Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis.
Lu Y et al.
Frontiers in Neuroscience, 2018
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Timmerman V et al.
Genes, 2014
24705285 (PubMed )
Supplement: genes-05-00013-s001.pdf
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
Brkanac Z et al.
American Journal of Human Genetics, 2009
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