(Q34593218)

English

Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry

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scholarly article

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Europe PubMed Central

PubMed publication ID

3 August 2017

Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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severe combined immunodeficiency

1 reference

based on heuristic

inferred from title

Claus Børsting

object named as

Claus Børsting

3

0 references

5

object named as

Niels Morling

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

author name string

Juan J Sanchez

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Gemma Monaghan

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Gail Norbury

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

H Bobby Gaspar

6

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Europe PubMed Central

PubMed publication ID

3 August 2017

language of work or name

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publication date

1 May 2007

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Europe PubMed Central

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3 August 2017

Annals of Human Genetics

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Europe PubMed Central

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3 August 2017

71

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Europe PubMed Central

PubMed publication ID

3 August 2017

Pt 3

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Europe PubMed Central

PubMed publication ID

3 August 2017

336-347

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Europe PubMed Central

PubMed publication ID

3 August 2017

Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2006.00338.X

21 January 2018

Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling

1 reference

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p53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency.

1 reference

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Introduction of an single nucleodite polymorphism-based "Major Y-chromosome haplogroup typing kit" suitable for predicting the geographical origin of male lineages

1 reference

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21 January 2018

Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency

1 reference

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21 January 2018

Linkage disequilibrium analysis of the human adenosine deaminase (ada) gene provides evidence for a lack of correlation between hot spots of equal and unequal homologous recombination

1 reference

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21 January 2018

Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa

1 reference

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21 January 2018

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

1 reference

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Nucleotide pool imbalance and adenosine deaminase deficiency induce alterations of N-region insertions during V(D)J recombination

1 reference

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21 January 2018

PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency

1 reference

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21 January 2018

Genotype is an important determinant of phenotype in adenosine deaminase deficiency

1 reference

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21 January 2018

1995 William Allan Award address. Human genetics: a discipline at risk for fragmentation

1 reference

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The human Y chromosome: an evolutionary marker comes of age

1 reference

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Dual origins of Finns revealed by Y chromosome haplotype variation

1 reference

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21 January 2018

Somatic cell genetics of adenosine deaminase expression and severe combined immunodeficiency disease in humans

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2006.00338.X

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Using linked markers to infer the age of a mutation

1 reference

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21 January 2018

High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence

1 reference

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21 January 2018

DMLE+: Bayesian linkage disequilibrium gene mapping.

1 reference

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21 January 2018

The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2006.00338.X

21 January 2018

Clustered charged amino acids of human adenosine deaminase comprise a functional epitope for binding the adenosine deaminase complexing protein CD26/dipeptidyl peptidase IV.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2006.00338.X

21 January 2018

Microsatellites provide evidence for Y chromosome diversity among the founders of the New World

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2006.00338.X

21 January 2018

Multiplex PCR and minisequencing of SNPs--a model with 35 Y chromosome SNPs

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2006.00338.X

21 January 2018

High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali males

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2006.00338.X

21 January 2018

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

1 reference

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21 January 2018

Kurdish (Iraq) and Somalian population data for 15 autosomal and 9 Y-chromosomal STR loci

1 reference

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Origins of Old Testament priests

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The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations

1 reference

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Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2006.00338.X

21 January 2018

Features of evolution and expansion of modern humans, inferred from genomewide microsatellite markers

1 reference

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21 January 2018

The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time

1 reference

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21 January 2018

Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99

1 reference

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21 January 2018

Identifiers

10.1111/J.1469-1809.2006.00338.X

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

ResearchGate publication ID

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