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[Genotypic diagnosis of Duchenne and Becker muscular dystrophies].
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Carrier detection and prenatal diagnosis of Duchenne/Becker muscular dystrophy (D/BMD) by DNA-analysis.
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Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
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Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy.
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Deletional mutations of dystrophin gene and carrier detection in eastern India.
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Isolated and contiguous glycerol kinase gene disorders: a review.
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Mutations in the sarcoglycan genes in patients with myopathy.
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Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex.
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Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.
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Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities.
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Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.
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Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
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Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.
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Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts.
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Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients.
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Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.
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