A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot–Marie–Tooth disease

2018 ◽  
Vol 28 (1) ◽  
pp. 44-47 ◽  
Author(s):  
Jun Fu ◽  
Yun Yuan
Keyword(s):  
Nonsense Mutation ◽  
Autosomal Recessive ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Homozygous Nonsense Mutation ◽  
Tooth Disease

Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15

Genomics ◽  
1999 ◽  
Vol 62 (3) ◽  
pp. 344-349 ◽  
Author(s):  
Kamel Ben Othmane ◽  
Ellen Johnson ◽  
Marisa Menold ◽  
Felicia L. Graham ◽  
Mongi Ben Hamida ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Chromosome 11P15 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree

2012 ◽  
Vol 91 (6) ◽  
pp. 1088-1094 ◽  
Author(s):  
Wang-yang Xu ◽  
Ming-min Gu ◽  
Lian-hua Sun ◽  
Wen-ting Guo ◽  
Hou-bao Zhu ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3′-Splice Site and Ser130Cys Mutation in theGDAP1Gene

2005 ◽  
Vol 36 (3) ◽  
pp. 206-209 ◽  
Author(s):  
D. Kabzińska ◽  
A. Kochański, ◽  
H. Drac ◽  
B. Ryniewicz ◽  
K. Rowińska-Marcińska ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies)

2006 ◽  
Vol 21 (1) ◽  
pp. 20-25 ◽  
Author(s):  
Velina Guergueltcheva ◽  
Ivailo Tournev ◽  
Veneta Bojinova ◽  
Janina Hantke ◽  
Ivan Litvinenko ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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