A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.

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A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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A novel pathogenic frameshift ...... NK+ SCID patients from Turkey.

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A novel pathogenic frameshift ...... NK+ SCID patients from Turkey.

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A novel pathogenic frameshift ...... NK+ SCID patients from Turkey.

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P1476

A novel pathogenic frameshift ...... NK+ SCID patients from Turkey

@en

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Meltem Kilercik

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Nihan Burtecene

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Osman Yesilbas

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Ozden Hatirnaz Ng

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Serdar Nepesov

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Ugur Ozbek

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Yildiz Camcioglu

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Yuk Yin Ng

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P2860

Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency

Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3

Primary immunodeficiencies: 2009 update

Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.

T-cell Receptor and K-deleting Recombination Excision Circles in Newborn Screening of T- and B-cell Defects: Review of the Literature and Future Challenges.

Diagnostics of primary immunodeficiency diseases: a sequencing capture approach

PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders.

Utility of next generation sequencing in clinical primary immunodeficiencies.

CD3 deficiencies.

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s00251-017-1005-7

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653-659

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scholarly article

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10.1007/S00251-017-1005-7

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English

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Suzan Cinar

Sinem Firtina

Muge Sayitoglu

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2017-06-09T00:00:00Z

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28597365

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