Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: From identification of mutations to prenatal diagnosis

Neuromuscular Disorders

Volumn 7, Issue 3, 1997, Pages 180-186

  Guicheney, Pascale ^a   Vignier, Nicolas ^a   Helbling Leclerc, Anne ^a   Nissinen, Marja ^b   Zhang, Xu ^c   Cruaud, Corinne ^d   Lambert, Jean Claude ^e   Richelme, Christian ^e   Topaloglu, Haluk ^f   Merlini, Luciano ^g   Barois, Annie ^h   Schwartz, Ketty ^a   Tomé, Fernando M S ^a   Tryggvason, Karl ^c   Fardeau, Michel ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF OULU   (Finland)

^c KAROLINSKA INSTITUTE   (Sweden)

^d Généihon   (France)

^e CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^f HACETTEPE UNIVERSITY   (Turkey)

^g RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^h RAYMOND POINCARÉ HOSPITAL   (France)

Author keywords

Congenital muscular dystrophy; Laminin chain; Merosin

Indexed keywords

LAMININ; MEROSIN;

AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; EXTRACELLULAR MATRIX; GENE MUTATION; GENETICS; HUMAN; MISSENSE MUTATION; MUSCULAR DYSTROPHY; NONSENSE MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN DEFICIENCY; REVIEW; SKELETAL MUSCLE;

EID: 0030997888     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00460-4     Document Type: Article

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