Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. - Mehta, Paulomi; Küspert, Melanie; Bale, Tejus; Brownstein, Catherine A.; Towne, Meghan C.; De Girolami, Umberto; Shi, Jiahai; Beggs, Alan H.; Darras, Basil T.; Wegner, Michael; Piao, Xianhua; Agrawal, Pankaj B. (Muscle & Nerve, 2017)
UnivIS-Import:2018-09-05:Pub.2017.med.IB.LPCIPDBI.novelm
Keywords: CNTNAP1; congenital neuropathy; exome sequencing; hypomyelination; missense mutation; nerve conduction