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Genetic linkage between Huntington's disease and D4S10(G8) in Scottish families

Autor: Ann Curtis, Susan Holloway, D. J. H. Brock, Moira Mennie, F. A. Millan

Publikováno v: Clinical Genetics. 35:133-138

Genetic linkage between Huntington's disease (HD) and polymorphic DNA markers at the D4S10 locus has been investigated in 16 Scottish families. A maximum lod score of 3.499 at a recombination fraction of 0.07 was found, with 95% confidence limits of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1960e25561e2ccefaf359e0a74dae2ca
https://doi.org/10.1111/j.1399-0004.1989.tb02918.x

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Carrier screening in the community

Autor: D. J. H. Brock

Publikováno v: Journal of Inherited Metabolic Disease. 18:525-532

A number of different models of cystic fibrosis (CF) carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been direct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86b793ff0ea090faf7e5b1524f2c9f7e
https://doi.org/10.1007/bf00710064

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Screening Alzheimer's disease patients for mutations in the amyloid precursor protein gene

Autor: A. Moffoot, D. Saint Clair, C. T. Jones, S. W. Morris, D. J. H. Brock

Publikováno v: Molecular and Cellular Probes. 7:161-165

Over the past two years a series of different mutations has been discovered in the amyloid precursor protein (APP) gene in patients with Alzheimer's disease. All have been clustered in exons 16 and 17, a region encoding the βA4 peptide found in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::038d60a7a4c460dcf52b1ccced9eae80
https://doi.org/10.1006/mcpr.1993.1023

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Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

Publikováno v: Human Genetics. 89:653-658

The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0636d0ccb77e88d8d73c27b2dd64b1c
https://doi.org/10.1007/bf00221957

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Mutation in codon 713 of the β amyloid precursor protein gene presenting with schizophrenia

Autor: C. Sharpe, D St Clair, C.T. Jones, C.M. Yates, S. W. Morris, A. Moffoot, D. J. H. Brock

Publikováno v: Nature Genetics. 1:306-309

Following reports of mutations of codon 717 in exon 17 of the amyloid precursor protein (APP) gene in early-onset familial Alzheimer's disease, we screened exon 17 for new mutations in presenile dementia. The majority of the 105 patients screened had

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f59bd9756ec4c2b5b179e7ca76b2ba2
https://doi.org/10.1038/ng0792-306

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Huntington's disease in a Sudanese family from Khartoum

Autor: Y. Samman, D. J. H. Brock, E. M. Scrimgeour

Publikováno v: Human Genetics. 96

Typical Huntington's disease (HD) was studied in a 40-year-old Sudanese man from Khartoum. He had 51 CAG repeats in the Huntington's gene. It is suspected that his mother and his 16-year-old son (both deceased) were also affected. Up to now, there ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6264487ad01d5faf63f9a904715581bf
https://doi.org/10.1007/bf00197424

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