Výsledky vyhledávání

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

Autor: R S, Devon, J R, Helm, G A, Rouleau, Y, Leitner, T, Lerman-Sagie, D, Lev, M R, Hayden

Publikováno v: Clinical genetics. 64(3)

Eight mutations in the ALS2 gene have been described as causing autosomal-recessive juvenile-onset forms of the motor neuron diseases amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. All mutations are small

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::162285aea162b286b4c15fb89e32731d
https://pubmed.ncbi.nlm.nih.gov/12919135

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Novel transcribed sequences neighbouring a translocation breakpoint associated with schizophrenia

Autor: R S, Devon, K L, Evans, J C, Maule, S, Christie, S, Anderson, J, Brown, Y, Shibasaki, D J, Porteous, A J, Brookes

Publikováno v: American journal of medical genetics. 74(1)

A 1.3Mb chromosome 11-specific yeast artificial chromosome (YAC) that spans a t(1;11) translocation breakpoint associated with major psychosis has been used to enrich cDNAs that are encoded within it and expressed in the human foetal brain. Database

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7baa1b07c160bb20a3829bcc8844a077
https://pubmed.ncbi.nlm.nih.gov/9034012

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Catch-linker + PCR labeling: a simple method to generate fluorescence in situ hybridization probes from yeast artificial chromosomes

Autor: R S Devon, E M Slorach, John C. Maule, Y Shibasaki, J R Gosden, David J. Porteous, Anthony J. Brookes

Publikováno v: PCR methods and applications. 4(4)

A simple and efficient method to generate hapten-labeled DNA fragments from a trace amount of YAC DNA isolated by PFGE is described. After agarase digestion of the gel slice containing the resolved YAC recombinant, the purified DNA is digested with S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bd6bbd263b6dc28e7d3dace72813163
https://pubmed.ncbi.nlm.nih.gov/8574188

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Ion-ing out the genetic basis of peripheral neuropathy associated with agenesis of the corpus callosum: mutations in a cation transporter cause ACCPN

Autor: R S Devon

Publikováno v: Clinical Genetics. 63:456-457

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f14419a96f4e99a47c9d54eddb1873d
https://doi.org/10.1034/j.1399-0004.2003.00095.x

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