Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping

Brain

Volumn 124, Issue 4, 2001, Pages 698-704

  Di Blasi, Claudia ^a   He, Yi ^b   Morandi, Lucia ^a   Cornelio, Ferdinando ^a   Guicheney, Pascale ^b   Mora, Marina ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Congenital muscular dystrophy; LAMA2; Laminin 2 chain; Merosin

Indexed keywords

LAMININ; MESSENGER RNA;

ARTICLE; CASE REPORT; CONSENSUS SEQUENCE; CONTROLLED STUDY; EXON; GENE EXPRESSION; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; INTRON; MALE; MUSCULAR DYSTROPHY; NONSENSE MUTATION; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL;

EID: 0035051754     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/124.4.698     Document Type: Article

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