(Q33489707)

English

Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene

scientific article

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scholarly article

1 reference

Europe PubMed Central

27 July 2017

Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene (English)

1 reference

Europe PubMed Central

27 July 2017

Wiskott-Aldrich syndrome

0 references

author name string

S P Kwan

1

1 reference

Europe PubMed Central

27 July 2017

T L Hagemann

2

1 reference

Europe PubMed Central

27 July 2017

B E Radtke

3

1 reference

Europe PubMed Central

27 July 2017

R M Blaese

4

1 reference

Europe PubMed Central

27 July 2017

F S Rosen

5

1 reference

Europe PubMed Central

27 July 2017

language of work or name

0 references

publication date

1 May 1995

1 reference

Europe PubMed Central

27 July 2017

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

27 July 2017

92

1 reference

Europe PubMed Central

27 July 2017

4706-4710

1 reference

Europe PubMed Central

27 July 2017

10

1 reference

Europe PubMed Central

27 July 2017

Signalling through SH2 and SH3 domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Perturbation of cell adhesion and microvilli formation by antisense oligonucleotides to ERM family members

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Structural basis for the binding of proline-rich peptides to SH3 domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

A catalogue of splice junction sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Carrier detection in the Wiskott Aldrich syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Yeast artificial chromosome libraries containing large inserts from mouse and human DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Direct selection: a method for the isolation of cDNAs encoded by large genomic regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

T cell lines characterize events in the pathogenesis of the Wiskott-Aldrich syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

21 June 2018

Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42013

31 October 2018

Physical mapping in a YAC contig of 11 markers on the human X chromosome in Xp11.23

1 reference

https://pubmed.ncbi.nlm.nih.gov/7753869

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Morphological abnormalities in the lymphocytes of patients with the Wiskott-Aldrich syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7753869

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiency diseases. Report prepared for the WHO by a scientific group on immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7753869

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction

1 reference

https://pubmed.ncbi.nlm.nih.gov/7753869

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22–Xp11.3

1 reference

https://pubmed.ncbi.nlm.nih.gov/7753869

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/7753869

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/7753869

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier

1 reference

https://pubmed.ncbi.nlm.nih.gov/7753869

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.92.10.4706

1 reference

Europe PubMed Central

27 July 2017

1995PNAS...92.4706K

0 references

1 reference

Europe PubMed Central

27 July 2017

1 reference

Europe PubMed Central

27 July 2017

ResearchGate publication ID

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