Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
Arikawa-Hirasawa, Eri
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. [electronic resource] - American journal of human genetics May 2002 - 1368-75 p. digital
Publication Type: Case Reports; Journal Article
0002-9297
10.1086/340390 doi
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Exons--genetics
Genotype
Heparan Sulfate Proteoglycans--chemistry
Humans
Infant
Male
Mutation--genetics
Myotonic Disorders--complications
Osteochondrodysplasias--complications
Phenotype
Structure-Activity Relationship
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. [electronic resource] - American journal of human genetics May 2002 - 1368-75 p. digital
Publication Type: Case Reports; Journal Article
0002-9297
10.1086/340390 doi
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Exons--genetics
Genotype
Heparan Sulfate Proteoglycans--chemistry
Humans
Infant
Male
Mutation--genetics
Myotonic Disorders--complications
Osteochondrodysplasias--complications
Phenotype
Structure-Activity Relationship