Literature DB >> 1269177

Segregation within a family of two mutant alleles for hexosaminidase A.

T E Kelly, L W Reynolds, J S O'Brien.   

Abstract

A healthy adult female was found to have low levels of hexosaminidase A in serum, leukocytes and fibroblasts when these were assayed with artificial substrates. Fibroblast assay with GM2 ganglioside gave values consistent with a Tay-Sachs heterozygote. Studies of this non-Jewish family revealed evidence for segregation of two mutant alleles for hexosaminidase A.

Entities:  

Mesh：

Substances：

Year:  1976        PMID： 1269177     DOI： 10.1111/j.1399-0004.1976.tb01609.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  15 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 2.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

Review 3.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

Review 4.  Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

Authors:  Kenneth J Valenzano; Richie Khanna; Allan C Powe; Robert Boyd; Gary Lee; John J Flanagan; Elfrida R Benjamin
Journal:  Assay Drug Dev Technol       Date:  2011-06       Impact factor: 1.738

Review 5.  The biochemical genetics of the hexosaminidase system in man.

Authors:  E Beutler
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

Review 6.  Genetic heterogeneity in metachromatic leukodystrophy.

Authors:  H Kihara
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

7.  Apparent hexosaminidase B deficiency in two healthy members of a pedigree.

Authors:  P Hechtman; A Rowlands
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

8.  Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.

Authors:  J S O'Brien; L Tennant; M L Veath; C R Scott; W E Bucknall
Journal:  Am J Hum Genet       Date:  1978-11       Impact factor: 11.025

9.  Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

Authors:  E Conzelmann; H J Kytzia; R Navon; K Sandhoff
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

10.  A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

Authors:  B L Triggs-Raine; E H Mules; M M Kaback; J S Lim-Steele; C E Dowling; B R Akerman; M R Natowicz; E E Grebner; R Navon; J P Welch
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.