ABC of D's in the folate transporter

Research output: Contribution to journalArticle

Abstract

Consanguinity "loads the dice" for turning up matching pairs when it comes to Mendelian inheritance of autosomal recessive genes. Such is the case in a novel loss-of-function mutation involving PCFT in a female infant with megaloblastic anemia, seizures, and severe growth retardation described by Shin et al in this issue of Blood.

Original languageEnglish (US)
Pages (from-to)5082-5083
Number of pages2
JournalBlood
Volume116
Issue number24
DOIs
StatePublished - Dec 9 2010

ASJC Scopus subject areas

  • Hematology
  • Biochemistry
  • Cell Biology
  • Immunology

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