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

Nature Genetics

Volumn 41, Issue 6, 2009, Pages 651-653

  Guernsey, Duane L ^a   Jiang, Haiyan ^a   Campagna, Dean R ^b   Evans, Susan C ^a   Ferguson, Meghan ^c   Kellogg, Mark D ^b   Lachance, Mathieu ^d   Matsuoka, Makoto ^a   Nightingale, Mathew ^a   Rideout, Andrea ^c   Saint Amant, Louis ^d   Schmidt, Paul J ^b   Orr, Andrew ^a   Bottomley, Sylvia S ^e   Fleming, Mark D ^b   Ludman, Mark ^a   Dyack, Sarah ^a   Fernandez, Conrad V ^a   Samuels, Mark E ^f  

^a DALHOUSIE UNIVERSITY   (Canada)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c IWK HEALTH CENTRE   (Canada)

^d UNIVERSITÉ DE MONTRÉAL   (Canada)

^e UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; PROTEIN SLC25A38; UNCLASSIFIED DRUG; HEME; SLC25A38 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HEME SYNTHESIS; HUMAN; INFANT; MALE; MITOCHONDRIAL GENE; MOLECULAR CLONING; NONHUMAN; PRIORITY JOURNAL; SIDEROBLASTIC ANEMIA; ANIMAL; BIOSYNTHESIS; FAMILY; FISH; GENETICS; HETEROZYGOTE; MUTATION; PHENOTYPE; YEAST;

ANEMIA, SIDEROBLASTIC; ANIMALS; CARRIER STATE; FAMILY; FISHES; HEME; HUMANS; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; YEASTS;

EUKARYOTA;

EID: 67349267792     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.359     Document Type: Article

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