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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F01%3A00104171%21RIV%2F2002%2FMZ0%2F111302%2FN
rdf:type
skos:Concept n19:Vysledek
dcterms:description
Mutations in the X chromosomal gene Connexin32 are detectable in most X-linked CMT families.We report a novel missense mutation--Tyr65His--in the first extracelullar domain of the Cx32 in a Czech CMTX1 family. Mutations in the X chromosomal gene Connexin32 are detectable in most X-linked CMT families.We report a novel missense mutation--Tyr65His--in the first extracelullar domain of the Cx32 in a Czech CMTX1 family.
dcterms:title
Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing
skos:prefLabel
Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing
skos:notation
RIV/00216208:11130/01:00104171!RIV/2002/MZ0/111302/N
n4:strany
461;468
n4:aktivita
n6:Z n6:P
n4:aktivity
P(NF6504), Z(MSM 111300003)
n4:cisloPeriodika
1
n4:dodaniDat
n7:2002
n4:domaciTvurceVysledku
n17:8510210 n17:2615622 n17:1548298
n4:druhVysledku
n10:J
n4:duvernostUdaju
n5:S
n4:entitaPredkladatele
n18:predkladatel
n4:idSjednocenehoVysledku
675451
n4:idVysledku
RIV/00216208:11130/01:00104171
n4:jazykVysledku
n16:eng
n4:klicovaSlova
Charcot-Marie-Tooth;novel;mutation;central;conduction;slowing
n4:klicoveSlovo
n8:slowing n8:conduction n8:mutation n8:novel n8:central n8:Charcot-Marie-Tooth
n4:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n4:kontrolniKodProRIV
[13B111EC54F0]
n4:nazevZdroje
International Journal of Molecular Medicine
n4:obor
n15:FH
n4:pocetDomacichTvurcuVysledku
3
n4:pocetTvurcuVysledku
4
n4:pocetUcastnikuAkce
0
n4:pocetZahranicnichUcastnikuAkce
0
n4:projekt
n13:NF6504
n4:rokUplatneniVysledku
n7:2001
n4:svazekPeriodika
8/4
n4:tvurceVysledku
Mazanec, Radim Seeman, Pavel Čtvrtečková, Markéta
n4:zamer
n14:MSM%20111300003
s:issn
1107-3756
s:numberOfPages
8
n9:organizacniJednotka
11130