A 3′-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

Human Molecular Genetics

Volumn 24, Issue 12, 2015, Pages 3418-3426

  Dusl, Marina ^a   Senderek, Jan ^a   Müller, Juliane S ^c   Vogel, Johannes G ^a   Pertl, Anja ^a   Stucka, Rolf ^a   Lochmüller, Hanns ^c   David, Robert ^b,d   Abicht, Angela ^a,d  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF ROSTOCK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; GLUTAMINE FRUCTOSE 6 PHOSPHATE TRANSAMINASE 1; MESSENGER RNA; MICRORNA; MICRORNA 206; UNCLASSIFIED DRUG; 3' UNTRANSLATED REGION; GFPT1 PROTEIN, HUMAN;

3' UNTRANSLATED REGION; ALGORITHM; ARTICLE; BINDING SITE; COMPUTER MODEL; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; GENE MUTATION; GENE REPRESSION; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MYOBLAST; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTERACTION; QUANTITATIVE ANALYSIS; RNA BINDING; SKELETAL MUSCLE; ANIMAL; CELL LINE; CHEMISTRY; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENETICS; METABOLISM; MUSCLE CELL; MUTATION; NUCLEOTIDE SEQUENCE; REPORTER GENE; RNA INTERFERENCE;

3' UNTRANSLATED REGIONS; ANIMALS; BASE SEQUENCE; BINDING SITES; CELL LINE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENES, REPORTER; GLUTAMINE-FRUCTOSE-6-PHOSPHATE TRANSAMINASE (ISOMERIZING); HUMANS; MICRORNAS; MUSCLE CELLS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; RNA INTERFERENCE; RNA, MESSENGER;

EID: 84930434377     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv090     Document Type: Article

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