Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Brioschi, Simona ^a   Gualandi, Francesca ^a   Scotton, Chiara ^a   Armaroli, Annarita ^a   Bovolenta, Matteo ^a   Falzarano, Maria S ^a   Sabatelli, Patrizia ^b   Selvatici, Rita ^a   D'Amico, Adele ^c   Pane, Marika ^d   Ricci, Giulia ^e   Siciliano, Gabriele ^e   Tedeschi, Silvana ^f   Pini, Antonella ^g   Vercelli, Liliana ^h   De Grandis, Domenico ⁱ   Mercuri, Eugenio ^d   Bertini, Enrico ^c   Merlini, Luciano ^a,b   Mongini, Tiziana ^h   Ferlini, Alessandra ^a   more..

^a UNIVERSITY OF FERRARA   (Italy)

^b CNR   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF PISA   (Italy)

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

^g MAGGIORE HOSPITAL   (Italy)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ Civile Hospital Santa Mariadella Misericordia   (Italy)

Author keywords

Dystrophinopathy; Female carriers; Transcriptional balancing; X inactivation

Indexed keywords

DNA; DYSTROPHIN; RNA;

ALLELE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE CARRIER; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; MUSCLE BIOPSY; MUSCLE WEAKNESS; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; PROTEIN EXPRESSION; WILD TYPE; X CHROMOSOME INACTIVATION;

ADOLESCENT; ADULT; ALLELES; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DOSAGE COMPENSATION, GENETIC; DYSTROPHIN; FEMALE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; OSTEOPONTIN; PHENOTYPE; POLYMERASE CHAIN REACTION; TRANSCRIPTION, GENETIC; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 84864959089     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-73     Document Type: Article

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