Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Wanda Kuhl"'
Publikováno v:
Blood Cells, Molecules, and Diseases. 21:207-216
Selective hybridization of small intestine and liver cDNA libraries was carried out using yeast artificial chromosomes (YACs) surrounding D6S105, the microsatellite that appears to be close to the gene for hereditary hemochromatosis ( HFE ). Of 14 ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fbbbd1857b5eba5b5d90f581e807afa
https://doi.org/10.1006/bcmd.1995.0024
https://doi.org/10.1006/bcmd.1995.0024
Publikováno v:
Molecular Medicine. 1:320-324
BACKGROUND: Gaucher disease is a common glycolipid storage disease, caused by a deficiency of lysosomal beta-glucosidase (glucocerebrosidase). Alglucerase is a form of glucocerebrosidase enriched with terminal mannose moieties, so as to "target" the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea9d7f097a04cc1069dab0cab2f7d4c4
https://doi.org/10.1007/bf03401556
https://doi.org/10.1007/bf03401556
Publikováno v:
Blood. 79:1662-1666
DNA from 100 unrelated patients, 97 of whom were Jewish and three half- Jewish, was analyzed for 22 mutations known to cause Gaucher disease. All but seven of the alleles were identified as having previously described mutations. Five of the unidentif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec425143a11f4a0076be7bd6ad4f7df7
https://doi.org/10.1182/blood.v79.7.1662.bloodjournal7971662
https://doi.org/10.1182/blood.v79.7.1662.bloodjournal7971662
Autor:
A. Vitucci, J. Monteagudo, A. Merino, Vives Corrons, Mototaka Yoshinari, M. Nishimura, Innocente Piazza, C. Rosatelli, Yoshitaka Miura, Tomomitsu Hotta, Hidehiko Saito, Nicola Bizzaro, J.D. Lutton, Marita Hilliges, Hans Joachim Seidel, Taketoshi Taniguchi, Hiroshi Goto, R.D. Levere, Robert G. Spanheimer, Takanobu Kurashige, Beryl Westwood, Masahiro Kamouchi, Osman Özcebe, N. Tannoia, J.L. Chertkov, Takashi Tomoda, N.G. Abraham, Oktay Özdemir, Markku Virtanen, M. Addis, Kazuhiro Tashiro, A. Cao, Koichiro Murai, Lars-Olof Hansson, Masatoshi Fujishima, J.Ll. Aguilar, Grant L. McClune, Chikako Inoue, Olle Johansson, A. Mathew, Ichiro Kubonishi, J.C. Reverter, S. Jiang, Angela Ingendaay, Wanda Kuhl, I. Besson, Melhem J. Sharafuddin, C. Enrich, A. Loi, Ichiro Nomura, Takao Ishitsuka, Keitaro Tsushita, G.B. Leoni, Yoshikazu Sukenaga, Semra Dündar, Isao Miyoshi, Ernest Beutler
Publikováno v:
Acta Haematologica. 86:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7681fd5ec015a6670dce6726d9d7ebae
https://doi.org/10.1159/000204827
https://doi.org/10.1159/000204827
Publikováno v:
Acta Haematologica. 86:179-182
We report the nucleotide (nt) substitutions of four unrelated glucose-6-phosphate dehydrogenase (G6PD)-deficient males. Only the mutation of G6PD Wayne was unique. It was a nt 769 C----G substitution causing a deduced substitution of glycine for argi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::908717e4efc83f38ea9e1ed11864b9ad
https://doi.org/10.1159/000204830
https://doi.org/10.1159/000204830
Publikováno v:
Prenatal diagnosis. 15(12)
Prenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5049b6c26953e0a11a946ebf08233b2
https://pubmed.ncbi.nlm.nih.gov/8750303
https://pubmed.ncbi.nlm.nih.gov/8750303
Publikováno v:
Genomics. 21(2)
In screening a rat mucosa cDNA subtraction library, a clone that exhibited a remarkable degree of homology with a previously described cDNA from the green garden pea, designated the 26g pea turgor protein, was found. A partial cDNA sequence from rat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::931ff317db507089790a1ea1ffa7c221
https://pubmed.ncbi.nlm.nih.gov/8088832
https://pubmed.ncbi.nlm.nih.gov/8088832
Publikováno v:
The Journal of biological chemistry. 266(7)
Over 400 supposedly biochemically and genetically distinct variants of glucose-6-phosphate dehydrogenase (G6PD) have been described in the past. In order to investigate these variants at the DNA sequence level we have now determined the relevant sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3dce13faa96eab3b4fc20ee374b93aa
https://pubmed.ncbi.nlm.nih.gov/1999409
https://pubmed.ncbi.nlm.nih.gov/1999409
Publikováno v:
Cell. 62(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34e4e571edd09c78db0ef695445938e4
https://pubmed.ncbi.nlm.nih.gov/2364435
https://pubmed.ncbi.nlm.nih.gov/2364435
Autor:
Wanda Kuhl, Ernest Beutler
Publikováno v:
Human genetics. 85(1)
DNA samples from 29 males with the G6PD A- phenotype and 14 males with a G6PD B phenotype were studied for the presence of each of four polymorphic restriction sites in the glucose-6-phosphate dehydrogenase locus. All G6PD A- subjects with the G6PD A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::996166b085c47784416e08ee9939517b
https://pubmed.ncbi.nlm.nih.gov/1972698
https://pubmed.ncbi.nlm.nih.gov/1972698