kw.\*:("GDAP1 gene")
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Autosomal recessive axonal form of charcot-marie-tooth disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 geneKABZINSKA, D; KOCHANSKI, A; DRAC, H et al.Neuropediatrics. 2005, Vol 36, Num 3, pp 206-209, issn 0174-304X, 4 p.Article
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish familyXIN, B; PUFIENBERGER, E; NYE, L et al.Clinical genetics. 2008, Vol 74, Num 3, pp 274-278, issn 0009-9163, 5 p.Article
Clinical, Electrophysiological and Genetic Studies of Two Families with Mutations in the GDAP1 GeneROUGEOT, C; CHABRIER, S; CAMDESSANCHE, J.-P et al.Neuropediatrics. 2008, Vol 39, Num 3, pp 184-187, issn 0174-304X, 4 p.Article
L239F founder mutation in GDAPI is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotypeKABZINSKA, Dagmara; STRUGALSKA-CYNOWSKA, Halina; TIMMERMAN, Vincent et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 3, pp 357-366, issn 1364-6745, 10 p.Article