Molecular Basis of Charcot-Marie-Tooth Disease Type 1A: Gene Dosage as a Novel Mechanism for a Common Autosomal Dominant Condition

1993 ◽  
Vol 306 (3) ◽  
pp. 177-184 ◽  
Author(s):  
Benjamin B. Roa ◽  
James R. Lupski
Keyword(s):  
Molecular Basis ◽  
Autosomal Dominant ◽  
Gene Dosage ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Autosomal Dominant Condition ◽  
Dominant Condition ◽  
Tooth Disease

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B

2006 ◽  
Vol 16 (3) ◽  
pp. 183-187 ◽  
Author(s):  
Gian Maria Fabrizi ◽  
Maria Pellegrini ◽  
Chiara Angiari ◽  
Tiziana Cavallaro ◽  
Alberto Morini ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Novel Mutation ◽  
Disease Type ◽  
Intracellular Domain ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Dosage Sensitivity

scholarly journals A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

2001 ◽  
Vol 9 (8) ◽  
pp. 646-650 ◽  
Author(s):  
ShoukhratM Ismailov ◽  
ValeriyP Fedotov ◽  
ElenaL Dadali ◽  
AlexanderV Polyakov ◽  
Christine Van Broeckhoven ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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