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Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type 1B

Authors :
Bernd, Rautenstrauss
Kathrin, Huehne
Christian, Thiel
Cornelia, Kraus
Source :
Human genetics. 122(5)
Publication Year :
2008

Subjects

Subjects :
Amino Acid Substitution
Charcot-Marie-Tooth Disease
Mutation, Missense
Humans
Codon
Connexins

Details

ISSN :
14321203
Volume :
122
Issue :
5
Database :
OpenAIRE
Journal :
Human genetics
Accession number :
edsair.pmid..........3961c226558370fa09587ea47f41ace3

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