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

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...

Full description

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

Internet

http://psasir.upm.edu.my/id/eprint/116509/
http://psasir.upm.edu.my/id/eprint/116509/1/116509.pdf

Similar Items