A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy

Human Molecular Genetics

Volumn 5, Issue 1, 1996, Pages 73-79

  Milasin, Jelena ^a   Muntoni, Francesco ^b   Severini, Giovanni Maria ^a   Bartoloni, Lucia ^c   Vatta, Matteo ^a   Krajinovic, Maja ^a   Mateddu, Anna ^e   Angelini, Corrado ^c   Camerini, Fulvio ^d   Falaschi, Arturo ^a   Mestroni, Luisa ^a,d   Giacca, Mauro ^a   Pinamonti, Bruno ^d   Sinagra, Gianfranco ^d   Di Lenarda, Andrea ^d   Silvestri, Furio ^d   Bussani, Rossana ^d   Davanzo, Milla ^d  

^a INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c UNIVERSITY OF PADOVA   (Italy)

^d UNIVERSITY OF TRIESTE   (Italy)

^e UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; DYSTROPHIN; ISOPROTEIN; MUSCLE PROTEIN;

ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; GENETIC CONSERVATION; HEART DILATATION; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; INTRON; MALE; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; PURKINJE CELL; RESTRICTION SITE; X CHROMOSOME LINKAGE;

ADULT; AGED; BASE SEQUENCE; CARDIOMYOPATHY, DILATED; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; FEMALE; HUMANS; INTRONS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MYOCARDIUM; PEDIGREE; POINT MUTATION; PROMOTER REGIONS (GENETICS); RNA SPLICING; RNA, MESSENGER; X CHROMOSOME;

EID: 0030028518     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.1.73     Document Type: Article

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