Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency

OBJECTIVES: A pair of female Malay monozygotic twins who presented with recurrent upper respiratory tract infections, hepatosplenomegaly, bronchiectasis and bicytopenia were recruited in this study. Both patients were suspected with primary immunodeficiency diseases. However, the definite diagnosis...

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Bibliografiske detaljer
Udgivet i:SAGE Open Med
Main Authors: Mat Ripen, Adiratna, Ghani, Hamidah, Chear, Chai Teng, Chiow, Mei Yee, Syed Yahya, Sharifah Nurul Husna, Kassim, Asiah, Mohamad, Saharuddin Bin
Format: Artigo
Sprog:Inglês
Udgivet: SAGE Publications 2020
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Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7249565/
https://ncbi.nlm.nih.gov/pubmed/32547748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2050312120922652
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