(Q28289171)

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Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis

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scholarly article

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Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis (English)

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severe combined immunodeficiency

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based on heuristic

inferred from title

author name string

P A Clark

1

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T Lester

2

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S Genet

3

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A M Jones

4

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R Hendriks

5

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R J Levinsky

6

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C Kinnon

7

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language of work or name

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publication date

October 1995

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96

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4

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427-32

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IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiency diseases. Report of a World Health Organization scientific group

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of the gamma chain of the human IL-2 receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sharing of the IL-2 receptor gamma chain with the functional IL-9 receptor complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The rapid detection of unknown mutations in nucleic acids.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional participation of the IL-2 receptor gamma chain in IL-7 receptor complexes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Utilization of the beta and gamma chains of the IL-2 receptor by the novel cytokine IL-15

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patterns of X chromosome inactivation in haematopoietic cells of female carriers of X linked severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Function of the interleukin-2 (IL-2) receptor gamma-chain in biologic responses of X-linked severe combined immunodeficient B cells to IL-2, IL-4, IL-13, and IL-15.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of cDNAs encoding the murine interleukin 2 receptor (IL-2R) gamma chain: chromosomal mapping and tissue specificity of IL-2R gamma chain expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00191801

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