About: Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene

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About: Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Myotonic dystrophy type I is caused by the expansion of a CTG repeat in the 3' UTR of the DMPK gene. A length exceeding 50 CTG triplets is pathogenic. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. Myotonic dystrophy type I is caused by the expansion of a CTG repeat in the 3' UTR of the DMPK gene. A length exceeding 50 CTG triplets is pathogenic. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. (en)
Title	Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene (en)
skos:prefLabel	Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene (en)
skos:notation	RIV/00216208:11130/09:5121!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	7
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Havlovicová, Markéta Sedláček, Zdeněk Kraus, Josef Křepelová, Anna Mazanec, Radim Maříková, Taťána Mušová, Zuzana
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	317162
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:5121
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	myotonic dystrophy; CTG repeat; interruptions; DMPK gene; spinocerebellar ataxia; trinucleotide repeats; friedreich ataxia; caa interruptions; triplet repeat; cgg repeats; instability; expansion; alleles; type-1 (en)
http://linked.open.../riv/klicoveSlovo	expansion instability myotonic dystrophy interruptions alleles trinucleotide repeats type-1 friedreich ataxia spinocerebellar ataxia CTG repeat DMPK gene caa interruptions cgg repeats triplet repeat
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[128FA4605CFE]
http://linked.open...i/riv/nazevZdroje	American Journal of Medical Genetics. Part A
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	7 (xsd:int)
http://linked.open...cetTvurcuVysledku	12 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	149A
http://linked.open...iv/tvurceVysledku	Kraus, Josef Ehler, E. Sedláček, Zdeněk Mazanec, Radim Křepelová, Anna Procházka, T. Maříková, Taťána Mušová, Zuzana Havlovicová, Markéta Jaklova, R. Koukal, P. Vales, J.
http://linked.open...ain/vavai/riv/wos	000267770000001
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1552-4825
number of pages	10 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene

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