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GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
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GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. Neurogenetics. 2010 Oct; 11(4):465-70.
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PubMed
subject areas
Alleles
Base Sequence
Charcot-Marie-Tooth Disease
Codon, Nonsense
Comparative Genomic Hybridization
Connexins
Frameshift Mutation
Gene Deletion
Genetic Diseases, X-Linked
Genome
Humans
Models, Genetic
Molecular Sequence Data
Mutation
Phenotype
Sequence Homology, Nucleic Acid
authors with profiles
JAMES LUPSKI