Zobrazeno 1 - 8
of 8
pro vyhledávání: '"L. E. Heptinstall"'
Publikováno v:
Archives of Disease in Childhood. 79:237-241
Genomic DNA from 57 unrelated MPS II (Hunter's disease) patients was analysed for mutations of the iduronate sulphatase (IDS) gene. The aim of the study was threefold: to identify the primary genetic lesion in patients, to investigate the correlation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82cfdd4ec5e8c02f390a787fe66a4943
https://doi.org/10.1136/adc.79.3.237
https://doi.org/10.1136/adc.79.3.237
Publikováno v:
Journal of Inherited Metabolic Disease. 18:221-223
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f79ea3b5823e1b4391892647d1b23a9
https://doi.org/10.1007/bf00711772
https://doi.org/10.1007/bf00711772
Autor:
James E. Wraith, Heather J. Church, S. Harris, Jackie Imrie, S. Vijayaraghaven, L. E. Heptinstall, G. T. N. Besley, C. Whitehouse, Alan Cooper
Publikováno v:
Journal of inherited metabolic disease. 25(6)
Although it is often perceived as a paediatric disorder, significant numbers of patients with Niemann-Pick disease type C present for the first time in adult life or survive into adult life. The presentation in these patients differs from that seen i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba85e6c40d7da9d07f3168faffb26bcc
https://pubmed.ncbi.nlm.nih.gov/12555942
https://pubmed.ncbi.nlm.nih.gov/12555942
Publikováno v:
Journal of inherited metabolic disease. 18(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aa33e4e6c8d3ca2788fc3b4506507c4
https://pubmed.ncbi.nlm.nih.gov/8598647
https://pubmed.ncbi.nlm.nih.gov/8598647
Publikováno v:
BioTechniques. 10(5)
A plasmid "cassette" system is presented that allows the development of amplification refractory mutation system (ARMS) primers. Primer development may be accomplished even in the absence of appropriate clinical material from patients demonstrating m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a7bd2bc2768545bf5b7801f816761970
https://pubmed.ncbi.nlm.nih.gov/1680353
https://pubmed.ncbi.nlm.nih.gov/1680353
Autor:
M. J. Schwarz, M. Super, C. Wallis, P. Beighton, C. Newton, L. E. Heptinstall, C. Summers, A. Markham, G. Hambleton, K. W. Webb, D. Bilto, D. Heaf, M. Dalzell
Publikováno v:
Human genetics. 85(4)
Details of haplotype and delta F508 status from various populations represented in the cystic fibrosis (CF) DNA bank of the Royal Manchester Children's Hospital are provided, together with information on the association of genotype and clinical statu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d0b293f3992ff257f226e1d86ba6d34
https://pubmed.ncbi.nlm.nih.gov/2210763
https://pubmed.ncbi.nlm.nih.gov/2210763
Autor:
C. Whitehouse, G. T. N. Besley, Clair Harris, Jackie Imrie, Marie T. Vanier, S. Dasgupta, Chandra Ward, Anthony H. Fensom, Elizabeth Jacklin, James E. Wraith, L. E. Heptinstall, Stephen Knight
Publikováno v:
Journal of Inherited Metabolic Disease. 30:833-833
Niemann-Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage disorder. Mutations in two genes (NPC1 and NPC2) produce indistinguishable clinical phenotypes by biochemical mechanisms that have not yet been entirely clarifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a90a2402b772019039cd031b8b0af12
https://doi.org/10.1007/s10545-007-9986-2
https://doi.org/10.1007/s10545-007-9986-2
Publikováno v:
Journal of Inherited Metabolic Disease. 18:151-152
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99f0e63bd436bc5fdbf01818fa09d2a3
https://doi.org/10.1007/bf00711752
https://doi.org/10.1007/bf00711752