Bronchiectasis and Recurrent Respiratory Infections with a Gain-of-Function Variant: First Case in Korea

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Bronchiectasis and Recurrent Respiratory Infections with a Gain-of-Function Variant: First Case in Korea

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im Oktober 2018 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 01 October 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в жовтні 2018

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Bronchiectasis and Recurrent R ...... n Variant: First Case in Korea

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Bronchiectasis and Recurrent R ...... n Variant: First Case in Korea

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Bronchiectasis and Recurrent R ...... n Variant: First Case in Korea

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Bronchiectasis and Recurrent R ...... n Variant: First Case in Korea

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Bronchiectasis and Recurrent R ...... n Variant: First Case in Korea

@en

Bronchiectasis and Recurrent R ...... n Variant: First Case in Korea

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P1476

Bronchiectasis and Recurrent R ...... n Variant: First Case in Korea

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Byung Woo Jhun

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Eliel Nham

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Hee Jae Huh

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Sae Rom Choi

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Sun Ae Yun

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Taehwan Kong

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Yae Jean Kim

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P2860

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

Management of bronchiectasis in adults

Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

British Thoracic Society guideline for non-CF bronchiectasis.

P304

1004-1007

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scholarly article

case report

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10.3349/YMJ.2018.59.8.1004

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English

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P478

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Chang-Seok Ki

Won-Jung Koh

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2018-10-01T00:00:00Z

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30187709

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6127433

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