(Q44423379)

2 December 2017

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype (English)

1 reference

10.1007/S00439-003-0959-8

2 December 2017

0 references

1 reference

https://api.crossref.org/works/10.1007/S00439-003-0959-8

29 December 2023

4

Shunji Tomatsu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12721840

29 December 2023

author name string

Adriana Maria Montaño

1

1 reference

2 December 2017

Ilkka Kaitila

2

1 reference

2 December 2017

Kazuko Sukegawa

3

1 reference

2 December 2017

Zenichiro Kato

5

1 reference

2 December 2017

Haruki Nakamura

6

1 reference

2 December 2017

Seiji Fukuda

7

1 reference

2 December 2017

Tadao Orii

8

1 reference

2 December 2017

Naomi Kondo

9

1 reference

2 December 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12721840

29 December 2023

publication date

30 April 2003

1 reference

2 December 2017

1 reference

2 December 2017

113

1 reference

2 December 2017

2

1 reference

2 December 2017

162-169

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-003-0959-8

2 December 2017

0 references

cites work

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

1 reference

12 December 2020

Efficient selection for high-expression transfectants with a novel eukaryotic vector

1 reference

12 December 2020

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

1 reference

12 December 2020

Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease

1 reference

12 December 2020

Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene

1 reference

12 December 2020

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

1 reference

12 December 2020

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype

1 reference

12 December 2020

Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part II: Dental findings

1 reference

12 December 2020

Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part III: Odontoid dysplasia

1 reference

12 December 2020

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

1 reference

12 December 2020

The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3

1 reference

12 December 2020

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

1 reference

12 December 2020

Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease

1 reference

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

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

1 reference

12 December 2020

Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)

1 reference

12 December 2020

Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene

1 reference

12 December 2020

Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings

1 reference

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

Thrombosis and oestrogens

1 reference

12 December 2020

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

1 reference

12 December 2020

Molecular genetics of the Finnish disease heritage.

1 reference

12 December 2020

Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)

1 reference

12 December 2020

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

1 reference

12 December 2020

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene

1 reference

12 December 2020

Biochemical and Biophysical Research Communications

15

61

709

Matalon

1974

1 reference

10.1007/S00439-003-0959-8

Crossref

DOI

https://api.crossref.org/works/10.1007/S00439-003-0959-8

10.1007/S00439-003-0959-8

29 December 2023

Identifiers

DOI

0 references

1 reference