(Q35194898)

English

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

0 references

Hurler syndrome

1 reference

based on heuristic

inferred from title

author name string

G Bach

1

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

S M Moskowitz

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

P T Tieu

3

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

A Matynia

4

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

E F Neufeld

5

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

language of work or name

0 references

publication date

1 August 1993

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

53

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

330-338

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Genomic sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Rapid and efficient site-specific mutagenesis without phenotypic selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Structure and sequence of the human alpha-L-iduronidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Prediction of the Secondary Structure of Proteins from their Amino Acid Sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

13 July 2018

Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682364

27 September 2018

Direct DNA sequencing of cDNA inserts from plaques using the linear polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8328452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8328452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relative Frequency of the Hurler and Hunter Syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8328452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new phenotypic variant of alpha-L-iduronidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8328452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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