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Hledat publikace relevantní k dotazu "CMT1A duplication"
CMT1A duplication
Publikace
Předměty
Osoby
Publikace
Studium
publication
Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype
1999 |
2. lékařská fakulta
publication
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): Reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs
2000 |
2. lékařská fakulta
publication
X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel mutation IIe127Ser in the GJB1 (connexin 32) gene
2005 |
2. lékařská fakulta
publication
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy
2007 |
2. lékařská fakulta