Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
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Highlights
► A non-sense SLC19A2 in four patients with TRMA indicating its high frequency in Persian population. ► Most patients with this mutation had short stature. ► This study expands the knowledge about the of genotype–phenotype correlations in TRMA. ► The results have implications for genetic counseling in other affected families.
Abbreviations
TRMA
thiamine-responsive megaloblastic anemia
PCR
polymerase chain reaction
CT scan
computerized tomography scan
MCV
mean corpuscular volume
WBC
white blood cell
SDS
standard deviation score
MPH
mid-parental height
Keywords
TRMA
Thiamine-responsive megaloblastic anemia
Rogers syndrome
SLC19A2
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These authors contributed equally to this work and should be considered joint first authors.
Copyright © 2013 Elsevier B.V.