Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Karen Zeiger"'
Autor:
I H Ellis, E C Landels, Michael M. Kaback, Karen Zeiger, Joyce Lim-Steele, M Bobrow, Peter M. Green, A H Fensom, Nancy Levy
Publikováno v:
Journal of Medical Genetics. 30:479-481
In a previous study we found that a Tay-Sachs disease (TSD) causing mutation in the intron 9 donor splice site of the HEXA gene occurs at high frequency in non-Jewish patients and carriers from the British Isles. It was found more frequently in subje
Autor:
Batsheva Bonne-Tamir, A Mascisch, Karen Zeiger, M Vienozinskis, Peter Hechtman, A Zoossman-Diskin, Feige Kaplan, M Bobrow, E C Landels, Michael M. Kaback, M Fernandes, Charles R. Scriver, D Lee, Joyce Lim-Steele, S Kapoor
Publikováno v:
European journal of human genetics : EJHG. 1(4)
A polymorphic variant in the human HEXA gene is described. This gene encodes the alpha-subunit of hexosaminidase A, the enzyme which is deficient in Tay-Sachs disease (TSD). In individuals carrying the polymorphism there is a T-->C transition at posi
Autor:
Nancy Levy, Michael M. Kaback, Karen Zeiger, Deepti Dabholkar, Joyce Lim-Steele, David F.M. Brown
Publikováno v:
Obstetrical & Gynecological Survey. 49:321-322
Autor:
Deepti Dabholkar, Karen Zeiger, Michael M. Kaback, Joyce Lim-Steele, Nancy Levy, David F.M. Brown
Publikováno v:
JAMA. 270:2307
Objectives. —To provide an update of the international experience with carrier screening and prenatal diagnosis for Tay-Sachs disease (TSD), to assess the impact of these efforts, and to review the recent developments in DNA technology with applica