LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

Neuromuscular Disorders

Volumn 18, Issue 2, 2008, Pages 137-145

  Siala, Olfa ^a,b   Louhichi, Nacim ^a   Triki, Chahnez ^c   Morinière, Madeleine ^b   Fakhfakh, Faiza ^a   Baklouti, Faouzi ^b  

^a UNIVERSITY OF SFAX   (Tunisia)

^b UNIVERSITÉ LYON 1   (France)

^c HABIB BOURGUIBA HOSPITAL   (Tunisia)

Author keywords

Congenital muscular dystrophy; Laminin; MDC1A; mRNA splicing; NMD

Indexed keywords

LAMININ ALPHA2;

ARTICLE; CASE REPORT; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; LINKAGE ANALYSIS; LUMBAR SPINE; MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RESPIRATORY TRACT DISEASE; RNA PROCESSING; SCHOOL CHILD; SCOLIOSIS;

EID: 39749176995     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.09.003     Document Type: Article

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