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Larsen, Mirjam ; Kress, Wolfram ; Schoser, Benedikt ; Hehr, Ute ; Müller, Clemens R. ; Rost, Simone

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype

Article

Larsen, Mirjam, Kress, Wolfram, Schoser, Benedikt , Hehr, Ute, Müller, Clemens R. and Rost, Simone (2016) Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype. European Journal of Human Genetics 24 (10), pp. 1467-1472.



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Details

Item typeArticle
Journal or Publication TitleEuropean Journal of Human Genetics
PublisherNature
Place of PublicationLONDON
Volume24
Number of Issue or Book Chapter10
Page Rangepp. 1467-1472
Date2016
Date of publication17 Mar 2020 12:08
InstitutionsMedicine > Lehrstuhl für Humangenetik
Identification Number
ValueType
10.1038/ejhg.2016.41DOI
KeywordsSKELETAL-MUSCLE; BINDING PROTEIN; TRIPLET REPEAT; CTG REPEAT; RNA; EXPRESSION; TYPE-1; MODEL; GENE; RECOGNITION;
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID42986

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