Literature DB >> 8807343

Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

F Schiavon1, C Fracasso, M L Mostacciuolo.   

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Year:  1996        PMID： 8807343     DOI： 10.1002/(SICI)1098-1004(1996)8:1<83::AID-HUMU14>3.0.CO;2-N

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.

Authors:  Paola Mandich; Marina Grandis; Alessandro Geroldi; Massimo Acquaviva; Alessandra Varese; Rossella Gulli; Paola Ciotti; Emilia Bellone
Journal:  J Hum Genet       Date:  2008-04-01       Impact factor: 3.172

Review 2.  Charcot-Marie-Tooth disease and intracellular traffic.

Authors:  Cecilia Bucci; Oddmund Bakke; Cinzia Progida
Journal:  Prog Neurobiol       Date:  2012-03-22       Impact factor: 11.685

3.  Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.

Authors:  Soo Hyun Nam; Young Bin Hong; Young Se Hyun; Da Eun Nam; Geon Kwak; Sun Hee Hwang; Byung-Ok Choi; Ki Wha Chung
Journal:  Mol Cells       Date:  2016-03-30       Impact factor: 5.034
  3 in total

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