Novel human pathological mutations. Gene symbol: MPZ. Disease: Dejerine-Sottas syndrome
Hum Genet
.
2007 Dec;122(5):558.
Authors
Bernd Rautenstrauss
1
,
Kathrin Huehne
Affiliation
1
University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany.
[email protected]
PMID:
18386328
No abstract available
MeSH terms
Amino Acid Substitution
Charcot-Marie-Tooth Disease / classification
Charcot-Marie-Tooth Disease / genetics*
Codon / genetics
Homozygote
Humans
Mutation, Missense*
Myelin P0 Protein / genetics*
Substances
Codon
Myelin P0 Protein