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崙棫戝妛朄恖丗帬夑堛壢戝妛
戝妛徯夘 島嵗丒巤愝 擖帋忣曬 嫵堢丒尋媶 嶻妛楢実 崙嵺楢実 妛惗惗妶 晬懏昦堾
 

帬夑堛壢戝妛TOP > 嫵堢丒尋媶 > 嵟怴尋媶榑暥偺徯夘 > 偙傟傑偱偺徯夘榑暥

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嵟怴尋媶榑暥偺徯夘
2016擭 5寧9擔 峏怴
Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, Masayuki Nakamori, Yoshihiro Kino, Ludovic Arandel, Arnaud Jollet, Christelle Thibault, Muriel Philipps, Serge Vicaire, Bernard Jost, Bjarne Udd, John Day, Denis Duboc, Karim Wahbi, Tsuyoshi Matsumura, Harutoshi Fujimura, Hideki Mochizuki, François Deryckere, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Emilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang-Yung Lee, Aurice Swanson, Adolfo Lopez de Munain, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric Wang, Thomas Zimmer, Denis Furling, Masanori Takahashi, Nicolas Charlet.
Splicing misregulation of SCN5A contributes to cardiac conduction delay and heart arrhythmia in myotonic dystrophy.

Nature Communications 2016 Apr 11;7:11067. doi: 10.1038/ncomms11067.


嬝峝捈惈僕僗僩儘僼傿乕姵幰偝傫偵偍偗傞怱憻揱摫忈奞偺婡彉傪柧傜偐偵偟偨

丂嬝峝捈惈僕僗僩儘僼傿乕偼19斣愼怓懱偺儈僆僩僯儞僾儘僥僀儞僉僫乕僛(DMPK)堚揱巕偺3’旕東栿椞堟偺CTG斀暅攝楍偺堎忢側怢挿偑尨場偲側傞僩儕僾儗僢僩昦偺堦偮偱偁傞偑丄怱揱摫忈奞傪堷偒婲偙偡儊僇僯僘儉偼夝柧偝傟偰偄側偐偭偨丅杮尋媶偼崙撪奜偺戝妛丒尋媶強偲偺嫟摨尋媶偱偁傝丄暘巕惗暔妛丄揹婥惗棟妛丄僐儞僺儏乕僞僔儈儏儗乕僔儑儞傪梡偄偨僩儔儞僗儗乕僔儑僫儖尋媶偱丄嬝嫮捈惈僕僗僩儘僼傿乕徢偺怱揱摫忈奞偺尨場偑怱嬝僫僩儕僂儉僠儍僱儖偺慖戰揑僗僾儔僀僔儞僌偺忈奞偵傛偭偰敪徢偡傞偙偲傪夝柧偟偨丅墑挿偟偨CTG儕僺乕僩偑揮幨惂屼場巕偱偁傞MBNL1偵寢崌偟丄戀帣宆偐傜惉恖宆傊偺僗僾儔僀僔儞僌偺愗傝懼偊偑忈奞偝傟丄loss of function僞僀僾乮婡擻梷惂宆乯偺僫僩儕僂儉僠儍僱儖偑敪尰偟懕偗傞偙偲偑尨場偱偁傞偙偲偑帵嵈偝傟偨丅

丂偙傟傜偺昦懺夝柧偼丄CTG儕僺乕僩偲揮幨惂屼場巕偺寢崌偵嶌梡偡傞怴偨側帯椕朄偺奐敪偵敪揥偡傞壜擻惈傪桳偡傞丅


暥愑丂撪壢妛島嵗乮弞娐婍丒屇媧婍乯丂杧峕丂柅

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