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Statements

Subject Item
n2:RIV%2F00216208%3A11310%2F03%3A00001274%21RIV%2F2004%2FMSM%2F113104%2FN
rdf:type
n5:Vysledek skos:Concept
dcterms:description
The authors report a new 4 base insertion in exon 30 of COL1A1 gene in a Czech girl with an atypical phenotype of osteogenesis imperfecta syndrome type I. The authors report a new 4 base insertion in exon 30 of COL1A1 gene in a Czech girl with an atypical phenotype of osteogenesis imperfecta syndrome type I.
dcterms:title
v New collagen alpha 1 chain gene mutation in a Czech girl suffering from severe brittle bone disease v New collagen alpha 1 chain gene mutation in a Czech girl suffering from severe brittle bone disease
skos:prefLabel
v New collagen alpha 1 chain gene mutation in a Czech girl suffering from severe brittle bone disease v New collagen alpha 1 chain gene mutation in a Czech girl suffering from severe brittle bone disease
skos:notation
RIV/00216208:11310/03:00001274!RIV/2004/MSM/113104/N
n3:strany
118;118
n3:aktivita
n13:P
n3:aktivity
P(LN00B107)
n3:cisloPeriodika
1 supp.
n3:dodaniDat
n4:2004
n3:domaciTvurceVysledku
n7:9099670 n7:8148007 n7:5691370
n3:druhVysledku
n14:J
n3:duvernostUdaju
n9:S
n3:entitaPredkladatele
n18:predkladatel
n3:idSjednocenehoVysledku
632643
n3:idVysledku
RIV/00216208:11310/03:00001274
n3:jazykVysledku
n17:eng
n3:klicovaSlova
collagen;alpha;chain;mutation;Czech;suffering;severe;brittle;disease;
n3:klicoveSlovo
n11:suffering n11:disease n11:Czech n11:brittle n11:alpha n11:chain n11:mutation n11:severe n11:collagen
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[6F6394E7F5DD]
n3:nazevZdroje
European Journal of Human Genetics
n3:obor
n15:EB
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
5
n3:pocetUcastnikuAkce
0
n3:pocetZahranicnichUcastnikuAkce
0
n3:projekt
n10:LN00B107
n3:rokUplatneniVysledku
n4:2003
n3:svazekPeriodika
11
n3:tvurceVysledku
Mazura, Ivan Maříková, Olga Mařík, Ivo
s:issn
1018-4813
s:numberOfPages
1
n16:organizacniJednotka
11310