Clin Genet. 1976 May;9(5):540-3.

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

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.

PMID:: 1269177; [PubMed - indexed for MEDLINE]

MeSH Terms, Substances

MeSH Terms

Substances

Hexosaminidases

LinkOut - more resources

Medical

HEXA Gene - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Tay-Sachs disease in a Moroccan Jewish family: a possible new mutation. [Isr J Med Sci. 1976]
Tay-Sachs disease in a Moroccan Jewish family: a possible new mutation.
Bach G, Navon R, Zeigler M, Beyth Y, Porter B, Cohen MM. Isr J Med Sci. 1976 Dec; 12(12):1432-9.
Two abnormalities of hexosaminidase A in clinically normal individuals. [Am J Hum Genet. 1986]
Two abnormalities of hexosaminidase A in clinically normal individuals.
Grebner EE, Mansfield DA, Raghavan SS, Kolodny EH, d'Azzo A, Neufeld EF, Jackson LG. Am J Hum Genet. 1986 Apr; 38(4):505-14.
Absence of hexosaminidase A and B in a normal adult. [N Engl J Med. 1975]
Absence of hexosaminidase A and B in a normal adult.
Dreyfus JC, Poenaru L, Svennerholm L. N Engl J Med. 1975 Jan 9; 292(2):61-3.
Review Approaches to the control and prevention of Tay-Sachs disease. [Prog Med Genet. 1974]
Review Approaches to the control and prevention of Tay-Sachs disease.
Kaback MM, Zeiger RS, Reynolds LW, Sonneborn M. Prog Med Genet. 1974; 10:103-34.
Review Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype. [Dev Neurosci. 1991]
Review Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.
Suzuki K, Vanier MT. Dev Neurosci. 1991; 13(4-5):288-94.

See reviews... See all...

Cited by 11 PubMed Central articles

Review Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders. [Assay Drug Dev Technol. 2011]
Review Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.
Valenzano KJ, Khanna R, Powe AC, Boyd R, Lee G, Flanagan JJ, Benjamin ER. Assay Drug Dev Technol. 2011 Jun; 9(3):213-35.
Review "Pseudodeficiencies" of lysosomal hydrolases. [Am J Hum Genet. 1994]
Review "Pseudodeficiencies" of lysosomal hydrolases.
Thomas GH. Am J Hum Genet. 1994 Jun; 54(6):934-40.
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. [Am J Hum Genet. 1993]
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
Cao Z, Natowicz MR, Kaback MM, Lim-Steele JS, Prence EM, Brown D, Chabot T, Triggs-Raine BL. Am J Hum Genet. 1993 Dec; 53(6):1198-205.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Segregation within a family of two mutant alleles for hexosaminidase A.
Segregation within a family of two mutant alleles for hexosaminidase A.
Clin Genet. 1976 May ;9(5):540-3.

PubMed
Multiple monovalent ion-dependent pathways for the folding of the L-21 Tetrahyme...
Multiple monovalent ion-dependent pathways for the folding of the L-21 Tetrahymena thermophila ribozyme.
J Mol Biol. 2003 Apr 25 ;328(2):463-78.

PubMed
Overexpression and nuclear accumulation of glyceraldehyde-3-phosphate dehydrogen...
Overexpression and nuclear accumulation of glyceraldehyde-3-phosphate dehydrogenase in a transgenic mouse model of Huntington's disease.
Mol Cell Neurosci. 2003 Mar ;22(3):285-97.

PubMed
Congenital generalized fibromatosis: an autosomal recessive condition?
Congenital generalized fibromatosis: an autosomal recessive condition?
Clin Genet. 1976 May ;9(5):488-94.

PubMed
Concomitant augmentation of type 1 CD4+ and CD8+ T-cell responses during success...
Concomitant augmentation of type 1 CD4+ and CD8+ T-cell responses during successful interferon-alpha and ribavirin treatment for chronic hepatitis C virus infection.
Hum Immunol. 2003 May ;64(5):497-504.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

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

Abstract

MeSH Terms, Substances

MeSH Terms

Substances

LinkOut - more resources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 11 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information