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Summary
SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 1 SLC28A1
CONCENTRATIVE NUCLEOSIDE TRANSPORTER 1 CNT1
606207
OMIM = Online Medalian Inheritance of Men
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15q25.3
benign metabolic phenotype?
symptoms
no consistent clinical signs or symptoms
onset, infancy
seizures
laboratory finding
Uridine mmol/mol Creaurine
Cytidine mmol/mol creatinineurine
Literature
Qin L,et al.Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndromeClin Chim Acta473026-312017
El-Hattab AW,Scaglia FMitochondrial CardiomyopathiesFront Cardiovasc Med30252016