Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Marga Belle White"'
Publikováno v:
Genomics. 12:301-306
We have developed a sensitive technique for detecting single base substitutions in polymerase chain reaction (PCR) products from individuals heterozygous for polymorphisms or new mutations. This technique takes advantage of the formation of heterodup
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c43050e45e9f7e7ed555ac20a47efc0
https://doi.org/10.1016/0888-7543(92)90377-5
https://doi.org/10.1016/0888-7543(92)90377-5
Publikováno v:
Human Immunology. 33:114-121
Differential DNA heteroduplex patterns were used to investigate inheritance of HLA class II region genes in a family where a living related kidney transplant was under consideration. Serologic typing of the family members for HLA class I (HLA-A, B, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af1df6a96ab0d0a29d60cb2d43ed2fe2
https://doi.org/10.1016/0198-8859(92)90061-q
https://doi.org/10.1016/0198-8859(92)90061-q
Autor:
Lynne M. Quittell, Bernard Gerrard, V S Baranov, Marga Belle White, Douglas S. Holsclaw, Nicolai I. Kapronov, Ornella Castiglione, Tatyana E. Ivaschenko, Claudia Stewart, Leslie J. Krueger, Gianfranco Sebastio, Gregory Dolganov, Michael Dean
Publikováno v:
Genomics. 10:266-269
We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the inser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00e5fc20fbc50d33e0107347d742c3ba
https://doi.org/10.1016/0888-7543(91)90510-l
https://doi.org/10.1016/0888-7543(91)90510-l
Autor:
Mark Leppert, Kon Taik Khaw, Bernard Gerrard, Jean A. Amos, Marga Belle White, Claudia Stewart, Michael Dean
Publikováno v:
Cell. 61:863-870
We have identified three different point mutations in the coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Each mutation segregates with the disease in two- or three-generation pedigrees and is not found on the no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bdab0b6875a4832a61132400139dee0
https://doi.org/10.1016/0092-8674(90)90196-l
https://doi.org/10.1016/0092-8674(90)90196-l
Publikováno v:
Genomics. 13(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48c7188666d79c34f992e88d5665accb
https://pubmed.ncbi.nlm.nih.gov/1374361
https://pubmed.ncbi.nlm.nih.gov/1374361
Autor:
Bernard Gerrard, Marga Belle White, Claudia Stewart, Mary Carrington, Michael Dean, Dean Mann, Tracy Miller
Publikováno v:
Human immunology. 33(3)
The technique of single-strand conformation polymorphism (SSCP), which is capable of distinguishing DNA sequence variability, was adapted to the identification of the HLA-DQA1 and DQB1 alleles. Eight DQA1 alleles and 12 DQB1 alleles were distinguishe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0428337dca38f73c8ce6c02c0234fa8a
https://pubmed.ncbi.nlm.nih.gov/1618658
https://pubmed.ncbi.nlm.nih.gov/1618658
Autor:
Gianfranco Sebastio, V. Baranov, Mark Leppert, B. Gerrard, M. Ianuzzi, Jean A. Amos, N. Kapronov, M. Dean, Marga Belle White, L. Krueger
Publikováno v:
Modern Trends in Human Leukemia IX ISBN: 9783540543602
Cystic fibrosis (CF) is an autosomal recessive disorder, and di Sant’ Agnese et al. [3] found that the sweat of CF patients contains an excess of sodium and chloride ions. Defects in the regulation of chloride ion transport have been documented in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::34583282a014a6d067e359a352cccc68
https://doi.org/10.1007/978-3-642-76829-3_31
https://doi.org/10.1007/978-3-642-76829-3_31
Autor:
Mark Leppert, Julian Zielenski, Dennis Nielsen, Claudia Stewart, Michael Dean, Marga Belle White, Bernard Gerrard
Publikováno v:
Genomics. 11(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450623e5a79f85014411c758c22e37b2
https://pubmed.ncbi.nlm.nih.gov/1723056
https://pubmed.ncbi.nlm.nih.gov/1723056
Autor:
Mark Leppert, V S Baranov, Bernard Gerrard, Leslie J. Krueger, Claudia Stewart, Douglas S. Holsclaw, Jean A. Amos, Marga Belle White, Michael Dean, Nicolai I. Kapronov, Lynne M. Quittell
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781468459364
Using oligonucleotide primers from the sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene we have employed the polymerase chain reaction to amplify several coding exons. These regions have been examined from 110 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::979c9d4362206d11858ce7ce475173a1
https://doi.org/10.1007/978-1-4684-5934-0_6
https://doi.org/10.1007/978-1-4684-5934-0_6
Publikováno v:
Nature. 344(6267)
Cystic fibrosis (CF) is a common recessive lethal genetic disorder, affecting 1 in 1,600 Caucasians. The disease causes defective regulation of chloride-ion transport in exocrine cells. Although in all CF families the disease is linked to a locus on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a335a7e488faced8c8ee0027e1628872
https://pubmed.ncbi.nlm.nih.gov/1691449
https://pubmed.ncbi.nlm.nih.gov/1691449