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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F09%3A5433%21RIV10-MZ0-11130___
rdf:type
skos:Concept n18:Vysledek
dcterms:description
In Czech patients with axonal type of CMT we have not found pathogenic, causal mutations in the LMNA gene, therefore we conclude, that LMNA mutations are not relevant cause of CMT2 in Czech patients. In Czech patients with axonal type of CMT we have not found pathogenic, causal mutations in the LMNA gene, therefore we conclude, that LMNA mutations are not relevant cause of CMT2 in Czech patients.
dcterms:title
Mutations in the LMNA gene do not cause axonal CMT in Czech patients Mutations in the LMNA gene do not cause axonal CMT in Czech patients
skos:prefLabel
Mutations in the LMNA gene do not cause axonal CMT in Czech patients Mutations in the LMNA gene do not cause axonal CMT in Czech patients
skos:notation
RIV/00216208:11130/09:5433!RIV10-MZ0-11130___
n3:aktivita
n12:P
n3:aktivity
P(NR8330)
n3:cisloPeriodika
6
n3:dodaniDat
n13:2010
n3:domaciTvurceVysledku
n10:8510210 n10:2615622 n10:9760091 n10:3658260 n10:8705879
n3:druhVysledku
n8:J
n3:duvernostUdaju
n16:S
n3:entitaPredkladatele
n14:predkladatel
n3:idSjednocenehoVysledku
328107
n3:idVysledku
RIV/00216208:11130/09:5433
n3:jazykVysledku
n9:eng
n3:klicovaSlova
autosomal recessive Charcot-Marie-Tooth disease; HMSN II; Lamin A/C; MLPA; mutation; charcot-marie-tooth; lamin a/c gene; muscular-dystrophy; hereditary motor; disease maps; neuropathy; families; type-2; locus; form
n3:klicoveSlovo
n6:hereditary%20motor n6:Lamin%20A%2FC n6:form n6:muscular-dystrophy n6:charcot-marie-tooth n6:families n6:MLPA n6:disease%20maps n6:neuropathy n6:autosomal%20recessive%20Charcot-Marie-Tooth%20disease n6:locus n6:type-2 n6:HMSN%20II n6:mutation n6:lamin%20a%2Fc%20gene
n3:kodStatuVydavatele
JP - Japonsko
n3:kontrolniKodProRIV
[CA68088F1BA5]
n3:nazevZdroje
Journal of Human Genetics
n3:obor
n4:EB
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
8
n3:projekt
n17:NR8330
n3:rokUplatneniVysledku
n13:2009
n3:svazekPeriodika
54
n3:tvurceVysledku
Laššuthová, Petra Seeman, Pavel Wallace, A. Rautenstrauss, B. Baránková, Lucia Haberlová, Jana Mazanec, Radim Huehne, K.
n3:wos
000268312700010
s:issn
1434-5161
s:numberOfPages
4
n15:organizacniJednotka
11130