Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein

American Journal of Human Genetics

Volumn 58, Issue 6, 1996, Pages 1177-1184

  Nissinen, M ^a   Helbling Leclerc, A ^a   Zhang, X ^a   Evangelista, T ^a   Topaloglu, H ^a   Cruaud, C ^a   Weissenbach, J ^a   Fardeau, M ^a   Tome, F M S ^a   Schwartz, K ^a   Tryggvason, K ^a   Guicheney, P ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYSTEINE; LAMININ;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; ONSET AGE; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BRAIN; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CONSANGUINITY; CONSENSUS SEQUENCE; CONSERVED SEQUENCE; CYSTEINE; DNA; DNA PRIMERS; DROSOPHILA; FEMALE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; LAMININ; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MALE; MICE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0029883979     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)