$Variant identification using whole exome sequencing in a family suspected with Iron-refractory Iron Deficiency Anaemia$
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Variant identification using whole exome sequencing in a family suspected with Iron-refractory Iron Deficiency Anaemia

Iron-refractory iron deficiency anaemia (IRIDA) is a rare type of anaemia that affects about 1 in 1 million people globally. The inheritance pattern is autosomal recessive, which is caused by a defective Transmembrane Protease Serine 6 (TMPRSS6) gene. Patients with TMPRSS6 variants exhibit microc...

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Bibliographic Details
Main Authors:	Karuppiah, Thilakavathy, Mohamed Ibrahim, Noor Haliza, Musa, Nurul Huda, Shankar, Aissvarya, Ahmad Asnawi, Asral Wirda, Yap, Mandy Yee Yee, Sathar, Jameela, Selvaratnam, Veena, Noor Alif Wira, Nurul Ain Suraya
Format:	Conference or Workshop Item
Language:	English
Published:	UPM 2024
Online Access:	http://psasir.upm.edu.my/id/eprint/116509/ http://psasir.upm.edu.my/id/eprint/116509/1/116509.pdf

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