Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.

CONCLUSION: Two novel compound heterozygous variants (NM_006996.2: exon2:c.336_363del:p.W112fs; exon2:c.358G>T:p.G120X) were identified, and GPAs in TRMA indicated the predictability of clinical manifestations. PMID: 33571483 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/33571483?dopt=Abstract

Source: International Journal of Clinical Chemistry - February 8, 2021 Category: Chemistry Authors: Zhang S, Qiao Y, Wang Z, Zhuang J, Sun Y, Shang X, Li G Tags: Clin Chim Acta Source Type: research