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Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization
Mutations in the spatacsin gene have recently been identified as the genetic cause of autosomal–recessive spastic paraplegia (SPG) with thin corpus callosum, map** to chromosome 15p13–21. While several nonsense...
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Article
Toward the complete genomic map and molecular pathology of human chromosome 4
The identification of disease genes via molecular DNA cloning has revolutionized human genetics and medicine. Both the candidate gene approach and positional cloning have been used successfully. The defects ca...