A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination

Journal of Cell Science

Volumn 121, Issue 10, 2008, Pages 1593-1604

  Patton, Bruce L ^a   Wang, Bing ^b   Tarumi, Yukie S ^a   Seburn, Kevin L ^b   Burgess, Robert W ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b JACKSON LABORATORY   (United States)

Author keywords

Assembly; Extracellular matrix; Merosin deficiency; Myelination; Schwann cell

Indexed keywords

ARGININE; CYSTEINE; LAMININ ALPHA2;

ALLELE; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; AMYELINATION; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; GENETIC CONSERVATION; HOMOZYGOSITY; MALE; MOUSE; MUSCULAR DYSTROPHY; MUTANT; NERVOUS SYSTEM FUNCTION; NONHUMAN; PATHOPHYSIOLOGY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; SCHWANN CELL;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASEMENT MEMBRANE; DISEASE MODELS, ANIMAL; LAMININ; MICE; MICE, MUTANT STRAINS; MICROSCOPY, ELECTRON, TRANSMISSION; MOLECULAR SEQUENCE DATA; MUSCLE FIBERS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, ANIMAL; MYELIN SHEATH; NEUROMUSCULAR JUNCTION; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; SCHWANN CELLS; SPINAL NERVE ROOTS;

ANIMALIA; MUS;

EID: 46249110939     PISSN: 00219533     EISSN: None     Source Type: Journal    
DOI: 10.1242/jcs.015354     Document Type: Article

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