Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level

Genetic Testing

Volumn 11, Issue 3, 2007, Pages 199-207

  Siala, Olfa ^a   Louhichi, Nacim ^a   Triki, Chahnez ^b   Morinière, Madeleine ^c   Rebai, Ahmed ^d   Richard, Pascale ^e,f   Guicheney, Pascale ^e,g   Baklouti, Faouzi ^c   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HABIB BOURGUIBA HOSPITAL   (Tunisia)

^c CENTRE DE GÉNÉTIQUE MOLÉCULAIRE ET CELLULAIRE   (France)

^d CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^g SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; COMPLEMENTARY DNA; DNA; LAMININ ALPHA2; MESSENGER RNA; RNA;

ARTICLE; CHILD; CODON; COMPREHENSION; CONGENITAL MUSCULAR DYSTROPHY TYPE 1A; CONTROLLED STUDY; DEGRADATION; DNA SEQUENCE; EXON; FAMILY; GENE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INTRON; MALE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; OPEN READING FRAME; PHENOTYPE; PROTEIN BINDING; PROTEIN DEFICIENCY; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING; STATISTICAL SIGNIFICANCE;

EID: 35349004184     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.0517     Document Type: Article

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