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1 Ergebnisse
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Truncating and missense mutations in IGHMBP2 cause Charcot-..:
Cottenie, E
;
Kochanski, A
;
Jordanova, A
...
https://discovery.ucl.ac.uk/id/eprint/1457906/1/mmc2.pdf. , 2014
Link:
https://discovery.ucl.ac.uk/id/eprint/1457906/1/mmc2.p..
RT Journal T1
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2
UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:1457906&Exemplar=1&LAN=DE A1 Cottenie, E A1 Kochanski, A A1 Jordanova, A A1 Bansagi, B A1 Zimon, M A1 Horga, A A1 Jaunmuktane, Z A1 Saveri, P A1 Rasic, VM A1 Baets, J A1 Bartsakoulia, M A1 Ploski, R A1 Teterycz, P A1 Nikolic, M A1 Quinlivan, R A1 Laura, M A1 Sweeney, MG A1 Taroni, F A1 Lunn, MP A1 Moroni, I A1 Gonzalez, M A1 Hanna, MG A1 Bettencourt, C A1 Chabrol, E A1 Franke, A A1 von Au, K A1 Schilhabel, M A1 Kabzińska, D A1 Hausmanowa-Petrusewicz, I A1 Brandner, S A1 Lim, SC A1 Song, H A1 Choi, BO A1 Horvath, R A1 Chung, KW A1 Zuchner, S A1 Pareyson, D A1 Harms, M A1 Reilly, MM A1 Houlden, H YR 2014 K1 Adult K1 Base Sequence K1 Charcot-Marie-Tooth Disease K1 Chromosome Mapping K1 Exome K1 Female K1 Haplotypes K1 Humans K1 Models K1 Molecular K1 Molecular Sequence Data K1 Mutation K1 Missense K1 Pedigree K1 Phenotype K1 Protein Interaction Mapping K1 Sequence Analysis K1 DNA K1 Sural Nerve JF https://discovery.ucl.ac.uk/id/eprint/1457906/1/mmc2.pdf LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/1457906/1/mmc2.pdf DO https://discovery.ucl.ac.uk/id/eprint/1457906/1/mmc2.pdf SF ELIB - SuUB Bremen
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