Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population
- 1 March 1995
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 95 (3) , 257-264
- https://doi.org/10.1007/bf00225190
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavagesHuman Genetics, 1995
- Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.Journal of Clinical Investigation, 1992
- Gene diagnosis and carrier detection in hunter syndrome by the iduronate‐2‐sulphatase cDNA probeJournal of Inherited Metabolic Disease, 1992
- Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfataseBiochemical and Biophysical Research Communications, 1991
- N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics1The Journal of Biochemistry, 1991
- Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria familiesHuman Genetics, 1991
- MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese populationHuman Genetics, 1990
- Carrier detection for hemophilia B: Evaluation of multiple polymorphic sitesAmerican Journal of Hematology, 1990
- Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reactionGenomics, 1989
- Carrier detection in Japanese haemophilia a families using factor VIII gene probe (F8A) and the gene-linked ST 14-1 probeJournal of Human Genetics, 1987