[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND VARIANT MCD LEU-480.
PubMed=8112288 [NCBI, ExPASy, EBI, Israel, Japan]
Steinmeyer K.,
Lorenz C.,
Pusch M.,
Koch M.C.,
Jentsch T.J.;
"Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).";
EMBO J. 13:737-743(1994).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLY-118.
DOI=10.1126/science.1083423; PubMed=12690205 [NCBI, ExPASy, EBI, Israel, Japan]
Scherer S.W.,
Cheung J.,
MacDonald J.R.,
Osborne L.R.,
Nakabayashi K.,
Herbrick J.-A.,
Carson A.R.,
Parker-Katiraee L.,
Skaug J.,
Khaja R.,
Zhang J.,
Hudek A.K.,
Li M.,
Haddad M.,
Duggan G.E.,
Fernandez B.A.,
Kanematsu E.,
Gentles S.,
Christopoulos C.C., ![]()
Choufani S.,
Kwasnicka D.,
Zheng X.H.,
Lai Z.,
Nusskern D.R.,
Zhang Q.,
Gu Z.,
Lu F.,
Zeesman S.,
Nowaczyk M.J.,
Teshima I.,
Chitayat D.,
Shuman C.,
Weksberg R.,
Zackai E.H.,
Grebe T.A.,
Cox S.R.,
Kirkpatrick S.J.,
Rahman N.,
Friedman J.M.,
Heng H.H.Q.,
Pelicci P.G.,
Lo-Coco F.,
Belloni E.,
Shaffer L.G.,
Pober B.,
Morton C.C.,
Gusella J.F.,
Bruns G.A.P.,
Korf B.R.,
Quade B.J.,
Ligon A.H.,
Ferguson H.,
Higgins A.W.,
Leach N.T.,
Herrick S.R.,
Lemyre E.,
Farra C.G.,
Kim H.-G.,
Summers A.M.,
Gripp K.W.,
Roberts W.,
Szatmari P.,
Winsor E.J.T.,
Grzeschik K.-H.,
Teebi A.,
Minassian B.A.,
Kere J.,
Armengol L.,
Pujana M.A.,
Estivill X.,
Wilson M.D.,
Koop B.F.,
Tosi S.,
Moore G.E.,
Boright A.P.,
Zlotorynski E.,
Kerem B.,
Kroisel P.M.,
Petek E.,
Oscier D.G.,
Mould S.J.,
Doehner H.,
Doehner K.,
Rommens J.M.,
Vincent J.B.,
Venter J.C.,
Li P.W.,
Mural R.J.,
Adams M.D.,
Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] OF 171-988, AND VARIANT MCR CYS-413.
DOI=10.1126/science.1379744; PubMed=1379744 [NCBI, ExPASy, EBI, Israel, Japan]
Koch M.C.,
Steinmeyer K.,
Lorenz C.,
Ricker K.,
Wolf F.,
Otto M.,
Zoll B.,
Lehmann-Horn F.,
Grzeschik K.-H.,
Jentsch T.J.;
"The skeletal muscle chloride channel in dominant and recessive human myotonia.";
Science 257:797-800(1992).
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[5]
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PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND VARIANT MCD GLU-230.
DOI=10.1038/ng0493-305; PubMed=7981750 [NCBI, ExPASy, EBI, Israel, Japan]
George A.L. Jr.,
Crackower M.A.,
Abdalla J.A.,
Hudson A.J.,
Ebers G.C.;
"Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).";
Nat. Genet. 3:305-310(1993).
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[6]
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VARIANT MCR SER-496.
DOI=10.1093/hmg/3.6.941; PubMed=7951242 [NCBI, ExPASy, EBI, Israel, Japan]
Lorenz C.,
Meyer-Kleine C.,
Steinmeyer K.,
Koch M.C.,
Jentsch T.J.;
"Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.";
Hum. Mol. Genet. 3:941-946(1994).
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[7]
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VARIANT MCR GLY-136.
DOI=10.1093/hmg/3.7.1123; PubMed=7981681 [NCBI, ExPASy, EBI, Israel, Japan]
Heine R.,
George A.L. Jr.,
Pika U.,
Deymeer F.,
Ruedel R.,
Lehmann-Horn F.;
"Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.";
Hum. Mol. Genet. 3:1123-1128(1994).
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[8]
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VARIANTS MCR LEU-167 AND GLN-338, AND VARIANT GLN-300.
PubMed=7874130 [NCBI, ExPASy, EBI, Israel, Japan]
George A.L. Jr.,
Sloan-Brown K.,
Fenichel G.M.,
Mitchell G.A.,
Spiegel R.,
Pascuzzi R.M.;
"Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.";
Hum. Mol. Genet. 3:2071-2072(1994).
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[9]
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VARIANTS MCR AND MCD.
PubMed=8533761 [NCBI, ExPASy, EBI, Israel, Japan]
Meyer-Kleine C.,
Steinmeyer K.,
Ricker K.,
Jentsch T.J.,
Koch M.C.;
"Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.";
Am. J. Hum. Genet. 57:1325-1334(1995).
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[10]
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VARIANT MCD MET-290, VARIANT MYOTONIA LEVIOR ARG-552, AND VARIANT GLY-118.
DOI=10.1093/hmg/4.8.1397; PubMed=7581380 [NCBI, ExPASy, EBI, Israel, Japan]
Lehmann-Horn F.,
Mailaender V.,
Heine R.,
George A.L. Jr.;
"Myotonia levior is a chloride channel disorder.";
Hum. Mol. Genet. 4:1397-1402(1995).
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[11]
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VARIANTS MCR CYS-150; ARG-200; CYS-261 AND VAL-415.
PubMed=8571958 [NCBI, ExPASy, EBI, Israel, Japan]
Mailaender V.,
Heine R.,
Deymeer F.,
Lehmann-Horn F.;
"Novel muscle chloride channel mutations and their effects on heterozygous carriers.";
Am. J. Hum. Genet. 58:317-324(1996).
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[12]
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VARIANTS MCD/MCR LEU-236; GLU-285; ALA-286; SER-307; VAL-485 AND ASN-556.
DOI=10.1093/hmg/7.11.1753; PubMed=9736777 [NCBI, ExPASy, EBI, Israel, Japan]
Kubisch C.,
Schmidt-Rose T.,
Fontaine B.,
Bretag A.H.,
Jentsch T.J.;
"ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.";
Hum. Mol. Genet. 7:1753-1760(1998).
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[13]
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VARIANTS MCR ILE-563 AND LEU-708.
DOI=10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU13>3.3.CO;2-S; PubMed=10215406 [NCBI, ExPASy, EBI, Israel, Japan]
Sangiuolo F.,
Botta A.,
Mesoraca A.,
Servidei S.,
Merlini L.,
Fratta G.,
Novelli G.,
Dallapiccola B.;
"Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita.";
Hum. Mutat. 11:331-331(1998).
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[14]
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VARIANTS MCD/MCR VAL-161; THR-313 AND ASN-556.
PubMed=9566422 [NCBI, ExPASy, EBI, Israel, Japan]
Plassart-Schiess E.,
Gervais A.,
Eymard B.,
Lagueny A.,
Pouget J.,
Warter J.-M.,
Fardeau M.,
Jentsch T.J.,
Fontaine B.;
"Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.";
Neurology 50:1176-1179(1998).
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[15]
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VARIANT [LARGE SCALE ANALYSIS] LYS-548.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T.,
Jones S.,
Wood L.D.,
Parsons D.W.,
Lin J.,
Barber T.D.,
Mandelker D.,
Leary R.J.,
Ptak J.,
Silliman N.,
Szabo S.,
Buckhaults P.,
Farrell C.,
Meeh P.,
Markowitz S.D.,
Willis J.,
Dawson D.,
Willson J.K.V.,
Gazdar A.F., ![]()
Hartigan J.,
Wu L.,
Liu C.,
Parmigiani G.,
Park B.H.,
Bachman K.E.,
Papadopoulos N.,
Vogelstein B.,
Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
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