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články
články
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Source: BMČ - články
MARC21 Bibliographic

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$a 10.1016/j.cca.2016.11.007 $2 doi
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$a (PubMed)27826100
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$a Solc, Roman $u Department of Anthropology and Human Genetics, Faculty of Science, Charles University in Prague, Vinicna 7, 128 43 Prague, Czech Republic. Electronic address: roman.solc@natur.cuni.cz.
245    10
$a Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization / $c R. Solc, M. Klugerova, J. Vcelak, A. Baxova, M. Kuklik, J. Vseticka, R. Beharka, K. Hirschfeldova,
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$a The TRPS1 protein is a potent regulator of proliferation, differentiation, and apoptosis. The TRPS1 gene aberrations are strongly associated with rare trichorhinophalangeal syndrome (TRPS) development. We have conducted MLPA analysis to capture deletion within the crucial 8q24.1 chromosomal region in combination with mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR sequenc
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$a mutační analýza DNA $7 D004252
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$a Klugerova, Michaela $u Department of Anthropology and Human Genetics, Faculty of Science, Charles University in Prague, Vinicna 7, 128 43 Prague, Czech Republic. Electronic address: Mickey.007@seznam.cz.
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$a Vcelak, Josef $u Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 116 94 Prague, Czech Republic. Electronic address: jvcelak@endo.cz.
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$a Baxova, Alice $u Institute of Biology and Medical Genetics, 1st Faculty of Medicine and General University Hospital, Charles University in Prague, Albertov 4, 128 00 Prague, Czech Republic. Electronic address: baxova@vfn.cz.
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$a Kuklik, Miloslav $u Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 116 94 Prague, Czech Republic; Genetic Department Olsanska, 1st and 3rd Faculty of Medicine, Charles University in Prague, Olsanska 2666/7, 130 00 Prague, Czech Republic. Electronic address: honza.kuklik@volny.cz.
700    1#
$a Vseticka, Jan $u Genetika Ostrava s.r.o., Korenskeho 1317/12, 702 00 Ostrava, Czech Republic. Electronic address: jan.vseticka55@gmail.com.
700    1#
$a Beharka, Rastislav $u Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, 625 00 Brno, Czech Republic. Electronic address: rbeharka@fnbrno.cz.
700    1#
$a Hirschfeldova, Katerina $u Institute of Biology and Medical Genetics, 1st Faculty of Medicine and General University Hospital, Charles University in Prague, Albertov 4, 128 00 Prague, Czech Republic. Electronic address: khirs@lf1.cuni.cz.
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$w MED00009464 $t Clinica chimica acta; international journal of clinical chemistry $x 1873-3492 $g Roč. 464, č. - (2017), s. 30-36
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$u https://pubmed.ncbi.nlm.nih.gov/27826100 $y Pubmed
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