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Toplam kayıt 6, listelenen: 1-6
Cerebral Infarct Associated With Factor V Leiden Mutation In A Boy With Hemophilia A
(Wiley-Liss, 1997)
An 11-year-old boy with mild hemophilia A was admitted to our hospital because of focal convulsions, Magnetic resonance imaging showed an old occipital infarct. Protein C, S, antithrombin ill, anticardiolipin antibodies ...
Calpainopathy - A Survey of Mutations and Polymorphisms
(Cell Press, 1999)
Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, ...
Assignment of the Muscle-Eye-Brain Disease Gene to 1P32-P34 by Linkage Analysis and Homozygosity Mapping
(Univ Chicago Press, 1999)
Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type ...
Identification Of A New Locus For A Peculiar Form Of Congenital Muscular Dystrophy With Early Rigidity Of The Spine, On Chromosome 1P35-36
(Univ Chicago Press, 1998)
Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic ...
Pcr Based Mutation Screening of The Laminin Alpha 2 Chain Gene (Lama2): Application to Prenatal Diagnosis and Search for Founder Effects in Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1998)
Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha 2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons was carried out and, based ...
Refinement of the Laminin Alpha 2 Chain Locus To Human Chromosome 6Q2 in Severe and Mild Merosin Deficient Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1997)
About half of the children with classical congenital muscular dystrophy (CMD) show an absence in their skeletal muscle of laminin alpha 2 chain, one of the components of the extracellular matrix protein, merosin. Linkage ...