Mucopolysaccharidosis IV A: Assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24
Journal Article
·
· Genomics; (United States)
- Gifu Univ. School of Medicine (Japan)
Plasmid clones of three independent genomic fragments of the gene of human N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4) were utilized in a fluorescence in situ suppression hybridization study to assign the locus to chromosome 16q24. Enzyme assay for GALNS in a patient with del(16)(q22.1) confirmed this finding. 8 refs., 1 fig., 1 tab.
- OSTI ID:
- 7076773
- Journal Information:
- Genomics; (United States), Journal Name: Genomics; (United States) Vol. 16:3; ISSN GNMCEP; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
Similar Records
Morquio A syndrome: Cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene
Mucopolysaccharidosis IV A: Molecular cloning of the human N-Acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5[prime]-flanking region
Mucopolysaccharidosis IVA: Identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene
Journal Article
·
Mon Aug 01 00:00:00 EDT 1994
· Genomics
·
OSTI ID:186039
Mucopolysaccharidosis IV A: Molecular cloning of the human N-Acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5[prime]-flanking region
Journal Article
·
Mon Feb 28 23:00:00 EST 1994
· Genomics; (United States)
·
OSTI ID:6789611
Mucopolysaccharidosis IVA: Identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene
Journal Article
·
Fri Sep 01 00:00:00 EDT 1995
· American Journal of Human Genetics
·
OSTI ID:110950
Related Subjects
550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINES
CARBOHYDRATES
CHROMOSOMES
DISEASES
DNA HYBRIDIZATION
ENZYMES
ESTERASES
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 16
HUMAN CHROMOSOMES
HYBRIDIZATION
HYDROLASES
MAPPING
METABOLIC DISEASES
MUCOPOLYSACCHARIDES
ORGANIC COMPOUNDS
POLYSACCHARIDES
PROTEINS
SACCHARIDES
59 BASIC BIOLOGICAL SCIENCES
AMINES
CARBOHYDRATES
CHROMOSOMES
DISEASES
DNA HYBRIDIZATION
ENZYMES
ESTERASES
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 16
HUMAN CHROMOSOMES
HYBRIDIZATION
HYDROLASES
MAPPING
METABOLIC DISEASES
MUCOPOLYSACCHARIDES
ORGANIC COMPOUNDS
POLYSACCHARIDES
PROTEINS
SACCHARIDES