Article
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Nature genetics - 1 Jun 2009
Guernsey Duane L, Jiang Haiyan, Campagna Dean R, Evans Susan C, Ferguson Meghan, Kellogg Mark D, Lachance Mathieu, Matsuoka Makoto, Nightingale Mathew, Rideout Andrea, Saint-Amant Louis, Schmidt Paul J, Orr Andrew, Bottomley Sylvia S, Fleming Mark D, Ludman Mark, Dyack Sarah, Fernandez Conrad V, Samuels Mark E
Abstract excerpt
The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological disorders whose morphological hallmark is the presence of ringed sideroblasts--bone marrow erythroid precursors containing pathologic iron deposits within mitochondria. Here, by positional cloning, we define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with...
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