Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan

Author： Yamamoto Masahiko   Yoshihara Tsuyoshi   Hattori Naoki   Sobue Gen  

Publisher： Springer Publishing Company

ISSN： 1364-6745

Source： Neurogenetics, Vol.5, Iss.1, 2004-02, pp. : 75-77

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

Mutations in the neurofilament light chain gene ( NEFL ) cause early onset severe Charcot–Marie–Tooth disease

By Papasozomenos S.C.  

Brain, Vol. 126, Iss. 3, 2003-03 ,pp. : 590-597

Oxford University Press

Access to resources Recommend Favorite

Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman

By Borgulová I.   Mazanec R.   Sakmaryová I.   Havlová M.   Šafka Brožková D.   Seeman P.  

Neurogenetics, Vol. 14, Iss. 3-4, 2013-11 ,pp. : 189-195

Springer Publishing Company

Access to resources Recommend Favorite

Pathomechanisms of Mutant Proteins in Charcot-Marie-Tooth Disease

By  

NeuroMolecular Medicine, Vol. 8, Iss. 1-2, 2006-03 ,pp. : 217-242

Humana Press, Inc

Access to resources Recommend Favorite

Clinical and Electrophysiological Aspects of Charcot-Marie-Tooth Disease

By  

NeuroMolecular Medicine, Vol. 8, Iss. 1-2, 2006-03 ,pp. : 3-22

Humana Press, Inc

Access to resources Recommend Favorite

Molecular cell biology of Charcot-Marie-Tooth disease

By Berger Philipp   Young Peter   Suter Ueli  

Neurogenetics, Vol. 4, Iss. 1, 2002-03 ,pp. : 1-15

Springer Publishing Company

Access to resources Recommend Favorite