Publication

Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, Dimauro S, Paw BH., Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet.93(5):906-14 2013
PubMed ID: 24119684

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Catalog IDGenderAge at SamplingDescriptionCollection_Type_id
GM00536Male27 YRAPPARENTLY HEALTHY INDIVIDUALGM