PCR based mutation screening of the laminin α2 chain gene (LAMA2): Application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

Journal of Medical Genetics

Volumn 35, Issue 3, 1998, Pages 211-217

  Guicheney, Pascale ^a   Vignier, Nicolas ^a   Zhang, Xu ^b   He, Yi ^a   Cruaud, Corinne ^c   Frey, Véronique ^a   Helbling Leclerc, Anne ^a   Richard, Pascale ^a   Estournet, Brigitte ^d   Merlini, Luciano ^e   Topaloglu, Haluk ^f   Mora, Marina ^g   Harpey, Jean Paul ^g   Haenggeli, Charles Antoine ^g   Barois, Annie ^d   Hainque, Bernard ^a   Schwartz, Ketty ^a   Tomé, Fernando M S ^a   Fardeau, Michel ^a   Tryggvason, Karl ^b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b KAROLINSKA INSTITUTE   (Sweden)

^c GÉNÉTHON   (France)

^d RAYMOND POINCARÉ HOSPITAL   (France)

^e RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^f HACETTEPE UNIVERSITY   (Turkey)

^g Hacettepe Children's Hospital ^*

Author keywords

Congenital muscular dystrophy; Laminin 2; Merosin

Indexed keywords

DNA; LAMININ; MUTANT PROTEIN;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CONSANGUINITY; DNA POLYMORPHISM; DNA SEQUENCE; FEMALE; FOUNDER EFFECT; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HUMAN; INTRON; MALE; MUSCULAR DYSTROPHY; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 17344373746     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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