Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

European Journal of Human Genetics

Volumn 20, Issue 12, 2012, Pages 1203-1208

  Kamsteeg, Erik Jan ^a   Kress, Wolfram ^b   Catalli, Claudio ^c   Hertz, Jens M ^d   Witsch Baumgartner, Martina ^e   Buckley, Michael F ^a   Van Engelen, Baziel G M ^a   Schwartz, Marianne ^f   Scheffer, Hans ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^f Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MYOTONIC DYSTROPHY PROTEIN KINASE;

ARTICLE; DNA DETERMINATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MYOTONIC DYSTROPHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SOUTHERN BLOTTING;

3' UNTRANSLATED REGIONS; FEMALE; GENETIC TESTING; HUMANS; INTRONS; MOLECULAR DIAGNOSTIC TECHNIQUES; MYOTONIC DISORDERS; MYOTONIC DYSTROPHY; PRACTICE GUIDELINES AS TOPIC; PREGNANCY; PRENATAL DIAGNOSIS; PROTEIN-SERINE-THREONINE KINASES; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84869221207     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.108     Document Type: Article

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