Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population (Q71675629)

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20 October 2019

title

Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population (English)

1 reference

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20 October 2019

author name string

H Iwata

1

1 reference

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20 October 2019

S Tomatsu

2

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20 October 2019

S Fukuda

3

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20 October 2019

A Uchiyama

4

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20 October 2019

G M Rezvi

5

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20 October 2019

T Ogawa

6

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20 October 2019

T Hori

7

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20 October 2019

Y Nakashima

8

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20 October 2019

A Yamagishi

9

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20 October 2019

K Sukegawa

10

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20 October 2019

publication date

1 March 1995

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20 October 2019

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20 October 2019

volume

95

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20 October 2019

issue

3

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20 October 2019

page(s)

257-264

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https://scigraph.springernature.com/pub.10.1007/bf00225190

20 October 2019

exact match

0 references

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Carrier detection in Japanese haemophilia A families using factor VIII gene probe (F8A) and the gene-linked ST 14-1 probe

1 reference

12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families

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12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics1

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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 cleavages

1 reference

12 December 2020

Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe

1 reference

12 December 2020

MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population

1 reference

12 December 2020

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

1 reference

12 December 2020

Carrier detection for hemophilia B: evaluation of multiple polymorphic sites.

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12 December 2020

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

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12 December 2020

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

1 reference

12 December 2020

XhoI and SphI RFLPs in the GALNS gene

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12 December 2020

The enzymic defect in Morquio's disease: The specificity of N-acetylhexosamine sulfatases

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12 December 2020

Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome

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12 December 2020

A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA

1 reference

12 December 2020

Heterogeneity of Morquio disease.

1 reference

12 December 2020

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

1 reference

12 December 2020

Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase

1 reference

12 December 2020

Polymorphism in the GALNS gene

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12 December 2020

Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele

1 reference

12 December 2020

N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease

1 reference

12 December 2020

Molecular analysis of PKU haplotypes in the population of southern Poland

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00225190

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7532616%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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