Mitochondrial carrier and sideroblastic anemia

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 13: PORPHYRINS, Part 19: BLOOD, _.

Nat Genet. 2009 Jun;41(6):651-3. Epub 2009 May 3.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.

Guernsey DL et al.

These investigators form Nova Scotia describe a new form of sideroblastic anemia caused by a mutation in a mitochondrial carrier. The gene was identified by positional cloning.

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Philippe Campeau

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