Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Carol E. Dowling"'
Autor:
Thaddeus E. Kelly, George H. Thomas, Beverly R. Akerman, Carol E. Dowling, Susan J. Hayflick, Emilie H. Mules, Roy A. Gravel
Publikováno v:
Human Mutation. 1:298-302
Following the birth of two infants with Tay-Sachs disease (TSD), a non-Jewish, Pennsylvania Dutch kindred was screened for TSD carriers using the biochemical assay. A high frequency of individuals who appeared to be TSD heterozygotes was detected (Ke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f11d283ed7741157be0c4029138907b
https://doi.org/10.1002/humu.1380010406
https://doi.org/10.1002/humu.1380010406
Autor:
Deborah Rund, Haig H. Kazazian, Eliezer A. Rachmilewitz, Dvora Filon, Ariella Oppenheim, Carol E. Dowling
Publikováno v:
Annals of the New York Academy of Sciences. 612:98-105
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e6304b8481c99cba9879f847aae9e9d
https://doi.org/10.1111/j.1749-6632.1990.tb24295.x
https://doi.org/10.1111/j.1749-6632.1990.tb24295.x
Autor:
Deborah Rund, Eliezer A. Rachmilewitz, Ariella Oppenheim, Tina C. Warren, Carol E. Dowling, Tirza Cohen, Dvora Filon, Haig H. Kazazian, Igal Barak
beta-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the beta-globin gene. Specific populations generally carry a small number of mutations, the most common of which are those that are widely distributed regionall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a8193436db0b96bf08eeb316479ae3b
https://europepmc.org/articles/PMC50800/
https://europepmc.org/articles/PMC50800/
Publikováno v:
The New England journal of medicine. 323(3)
HEMOGLOBIN is a tetramer consisting of two pairs of globin chains, each of which is associated with a heme group. In adults, the predominant hemoglobin — hemoglobin A — is composed of two α-globin and two β-globin chains (α2β2); the principal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcde5e0632074419c20d132e31db1167
https://pubmed.ncbi.nlm.nih.gov/1694572
https://pubmed.ncbi.nlm.nih.gov/1694572
Autor:
Haig H. Kazazian, Carol E. Dowling, Stylianos E. Antonarakis, Joel Katz, Effrosini P. Economou, Tina C. Warren, Corinne D. Boehm
Publikováno v:
Annals of the New York Academy of Sciences. 612
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19dc2abc6ab088490964d29716b734bd
https://pubmed.ncbi.nlm.nih.gov/1705403
https://pubmed.ncbi.nlm.nih.gov/1705403
Publikováno v:
Annals of the New York Academy of Sciences. 565:44-47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc79f0f36ec335517a109ba264cecb0
https://doi.org/10.1111/j.1749-6632.1989.tb24148.x
https://doi.org/10.1111/j.1749-6632.1989.tb24148.x
Publikováno v:
Blood. 67:1185-1188
Analysis of restriction site polymorphisms in the beta-globin gene cluster of a Saudi Arabian female with beta zero-thalassemia demonstrated that both of her beta-globin genes were missing a nonpolymorphic AvaII site in exon 2. Examination of the nor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71342897cd17bd8de6969ea96f56cd39
https://doi.org/10.1182/blood.v67.4.1185.1185
https://doi.org/10.1182/blood.v67.4.1185.1185
Publikováno v:
Blood. 67:1185-1188
Analysis of restriction site polymorphisms in the beta-globin gene cluster of a Saudi Arabian female with beta zero-thalassemia demonstrated that both of her beta-globin genes were missing a nonpolymorphic AvaII site in exon 2. Examination of the nor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4dfdcc66b208edb69e4f952c088ec77
https://doi.org/10.1182/blood.v67.4.1185.bloodjournal6741185
https://doi.org/10.1182/blood.v67.4.1185.bloodjournal6741185
Publikováno v:
Blood. 68:964-966
To make possible prenatal diagnosis of beta-thalassemia in China and Southeast Asia by direct detection of mutant beta-globin genes, we have determined the spectrum of mutations producing the disorder in this region of the world. Seventy-eight beta-t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::034a49a331ecd119fdc667b33e1714b4
https://doi.org/10.1182/blood.v68.4.964.bloodjournal684964
https://doi.org/10.1182/blood.v68.4.964.bloodjournal684964
Autor:
Carol E. Dowling, Henry A. Erlich, Haig H. Kazazian, Randall Keichi Saiki, Russell Higuchi, Corinne Wong
Publikováno v:
Nature. 330:384-386
Direct sequencing of specific regions of genomic DNA became feasible with the invention of the polymerase chain reaction (PCR) which permits amplification of specific regions of DNA. Recently, human mitochondrial DNA was amplified and directly sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce82a56dbf738c5e4f064f94d48f7df
https://doi.org/10.1038/330384a0
https://doi.org/10.1038/330384a0