Zobrazeno 1 - 5
of 5
pro vyhledávání: '"E C Landels"'
Publikováno v:
Journal of Medical Genetics. 29:563-567
In the course of defining mutations causing Tay-Sachs disease (TSD) in non-Jewish patients and carriers from the British Isles, we identified a guanine to adenine change (also previously described) in the obligatory GT sequence of the donor splice si
Publikováno v:
Journal of Medical Genetics. 28:101-109
An assay for measuring hexosaminidase A in serum and leucocytes is described in which a centrifugal analyser is used for automation of the enzyme assays after manual heat inactivation. The assay was used in a screening programme to identify heterozyg
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
Publikováno v:
Journal of medical genetics. 28(3)
Tay-Sachs disease is a lethal neurodegenerative disorder caused by deficiency of the lysosomal enzyme beta-hexosaminidase A and inherited in an autosomal recessive fashion; carriers of the disease are 10 times more frequent in the Ashkenazi Jewish co