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Biallelic Hypomorphic Variants in CAD Cause Uridine-Responsive Macrocytic Anaemia with Elevated Haemoglobin-A2.

Orna Steinberg-Shemer,Joanne Yacobovich,Sharon Noy-Lotan,Orly Dgany,Tanya Krasnov,Assaf Barg,Yuval E. Landau,Katya Kneller,Raz Somech,Oded Gilad,Dafna Brik Simon,Naama Orenstein,Shai Izraeli,Francisco del Cano-Ochoa,Hannah Tamary,Santiago Ramon-Maiques

BRITISH JOURNAL OF HAEMATOLOGY（2024）

引用 0|浏览36
关键词
anaemia,genetic disorders,haemoglobin,paediatric
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