(Q33681509)

English

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Sanfilippo syndrome

1 reference

based on heuristic

inferred from title

author name string

C E Beesley

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

E P Young

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A Vellodi

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

B G Winchester

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 November 1998

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

35

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

910-914

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

NAGLU mutations underlying Sanfilippo syndrome type B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

The molecular basis of Sanfilippo syndrome type B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

Sequence variations in the first exon of alpha-galactosidase A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

Modification of enzymatically amplified DNA for the detection of point mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

The laboratory diagnosis of sanfilippo disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051483

21 June 2018

Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9832037

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9832037

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9832037

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.35.11.910

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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