Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine ‐responsive megaloblastic anemia in an Egyptian family
ConclusionOur analysis extend the number of inactivating mutations inSLC19A2 leading to TRMA that could guide future prenatal diagnosis for the family and follow ‐up for patients.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Khalda Amr,
Patrycja Pawlikowska,
Said Aoufouchi,
Filippo Rosselli,
Ghada El ‐Kamah Tags: ORIGINAL ARTICLE Source Type: research
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