A single‐center pilot study in Malaysia on the clinical utility of whole‐exome sequencing for inborn errors of immunity

Primary immunodeficiency diseases refer to inborn errors of immunity (IEI) that affect the normal development and function of the immune system. The phenotypical and genetic heterogeneity of IEI have made their diagnosis challenging. Hence, whole‐exome sequencing (WES) was employed in this pilot stu...

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Detalles Bibliográficos
Autores principales: Ripen, Adiratna Mat, Chear, Chai Teng, Baharin, Mohd Farid, Nallusamy, Revathy, Chan, Kwai Cheng, Kassim, Asiah, Choo, Chong Ming, Wong, Ke Juin, Fong, Siew Moy, Tan, Kah Kee, Nachiappan, Jeyaseelan P., Teo, Kai Ru, Chiow, Mei Yee, Hishamshah, Munirah, Ghani, Hamidah, Muralitharan, Rikeish R., Mohamad, Saharuddin Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8506128/
https://www.ncbi.nlm.nih.gov/pubmed/34060650
http://dx.doi.org/10.1111/cei.13626

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