Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Magri, Francesca ^a   Del Bo, Roberto ^a   D'Angelo, Maria G ^b   Govoni, Alessandra ^a   Ghezzi, Serena ^a   Gandossini, Sandra ^b   Sciacco, Monica ^a   Ciscato, Patrizia ^a   Bordoni, Andreina ^a   Tedeschi, Silvana ^a   Fortunato, Francesco ^a   Lucchini, Valeria ^a   Cereda, Matteo ^b   Corti, Stefania ^a   Moggio, Maurizio ^a   Bresolin, Nereo ^a,b   Comi, Giacomo P ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

ADOLESCENT; ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CHILD; CLINICAL ARTICLE; CODON; DUCHENNE MUSCULAR DYSTROPHY; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SCHOOL CHILD; SEQUENCE ANALYSIS; ALLELE; ALTERNATIVE RNA SPLICING; COHORT ANALYSIS; DNA SEQUENCE; GENE EXPRESSION REGULATION; GENETICS; MIDDLE AGED; PHENOTYPE; STOP CODON;

ADOLESCENT; ADULT; ALLELES; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CODON, TERMINATOR; COHORT STUDIES; DYSTROPHIN; FRAMESHIFT MUTATION; HUMANS; MIDDLE AGED; MUSCULAR DYSTROPHY, DUCHENNE; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 79952457683     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-37     Document Type: Article

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