We report herein a 1.5-year-old gir

We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8

ผลลัพธ์ (คลิงออน) 1:

1.5-DIS-ben be'Hom je methylmalonic acidemia (mma) neH whom tu' mutations missense cha' ja' herein maH: qaStaHvIS exon Sam novel i739t mutation: 13 l494x mutation neH exon 8 je