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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Detalles Bibliográficos
Autores principales: Mat Ripen, Adiratna, Ghani, Hamidah, Chear, Chai Teng, Chiow, Mei Yee, Syed Yahya, Sharifah Nurul Husna, Kassim, Asiah, Mohamad, Saharuddin Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249565/
https://www.ncbi.nlm.nih.gov/pubmed/32547748
http://dx.doi.org/10.1177/2050312120922652

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249565/
https://www.ncbi.nlm.nih.gov/pubmed/32547748
http://dx.doi.org/10.1177/2050312120922652

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