About: Detection of mutations in the GDAP1, LITAF, PRX and NEFL genes as newly discovered possible causes of inherited neuropaties Charcot-Marie-Tooth - extended investigation in the large cohort of at least 300 Czech families without the most common mutations.

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About: Detection of mutations in the GDAP1, LITAF, PRX and NEFL genes as newly discovered possible causes of inherited neuropaties Charcot-Marie-Tooth - extended investigation in the large cohort of at least 300 Czech families without the most common mutations. Goto Sponge NotDistinct Permalink

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rdf:type	http://linked.opendata.cz/ontology/domain/vavai/Projekt
Description	To continue the long term project of elucidation of possible causes of inherited peripheral neuropathies by the extended analysis of recently discovered candidate genes - mainly LITAF, GDAP1, PRX and NEFL in a large previously collected cohort of at least 300 Czech Charcot-Marie-Tooth disease families with already excluded main mutations - CMT1A duplication/ HNPP deletion, Cx32, MPZ and PMP22 gene mutations. (en) Zajistit pokračování projektu vyšetření molekulárních příčin dědičných neuropatií rozšířením vyšetřovacích možností o analýzu nově objevených kandidátních genů - zejména LITAF, GDAP1, PRX a NEFL v již shromážděném souboru nejméně 300 rodin s chorobami Charcot-Marie-Tooth s již vyloučenými nejčastějšími genovými mutacemi - CMT1A duplikace/ HNPP delece, Cx32, MPZ a PMP22. (cs)
Title	Detection of mutations in the GDAP1, LITAF, PRX and NEFL genes as newly discovered possible causes of inherited neuropaties Charcot-Marie-Tooth - extended investigation in the large cohort of at least 300 Czech families without the most common mutations. (en) Detekce mutací genů GDAP1, LITAF, PRX, NEFL jako nově objevených příčin dědičných neuropatií Charcot-Marie-Tooth - dovyšetření rozsáhlého souboru více než 300 českých rodin s již vyloučenými nejčastějšími mutacemi. (cs)
http://linked.open...avai/druh-souteze	http://linked.opendata.cz/resource/domain/vavai/cep/druh-souteze/VS
http://linked.open...domain/vavai/faze	http://linked.opendata.cz/resource/domain/vavai/cep/faze/22182955
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http://linked.open...n/vavai/kategorie	http://linked.opendata.cz/resource/domain/vavai/cep/kategorie/21
http://linked.open...vai/klicova-slova	Charcot-Marie-Tooth; GDAP1; NEFL; LITAF1; PRX; HMSN; myelin; axon (en)
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is http://linked.open...ain/vavai/projekt of	http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2004/1A8254/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2005/1A8254/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2006/1A8254/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2007/1A8254/orjk-11130

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