The human neuregulin-2 ( NRG2 ) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q

1999 ◽  
Vol 104 (4) ◽  
pp. 326-332 ◽  
Author(s):  
H. Z. Ring ◽  
H. Chang ◽  
Angèle Guilbot ◽  
Alexis Brice ◽  
Eric LeGuern ◽  
...  
Keyword(s):  
Gene Cloning ◽  
Autosomal Recessive ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
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

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
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