ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis

American Journal of Medical Genetics

Volumn 109, Issue 3, 2002, Pages 202-205

  Visap, Ilona ^a,c   Fellman, Vineta ^a   Lanyi, Lisa ^a   Peltonen, Leena ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

ABCB6; Fetal growth retardation; GRACILE syndrome; Hemosiderosis; MTABC3

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN; PROTEIN ABCB 6; UNCLASSIFIED DRUG;

AMINOACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHOLESTASIS; CHROMOSOME 2Q; GENE MAPPING; GENE MUTATION; GRACILE SYNDROME; GROWTH RETARDATION; HUMAN; IRON OVERLOAD; LACTIC ACIDOSIS; METABOLIC DISORDER; MITOCHONDRIAL RESPIRATION; PATHOGENESIS; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ACIDOSIS, LACTIC; ATP-BINDING CASSETTE TRANSPORTERS; BLOTTING, NORTHERN; CHOLESTASIS; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENETIC PREDISPOSITION TO DISEASE; GROWTH DISORDERS; HAPLOTYPES; HUMANS; IRON; RENAL AMINOACIDURIAS; RNA, MESSENGER; SYNDROME;

EID: 0036568972     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10331     Document Type: Article

References (11)

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2. Exogenous apotransferrin and exchange transfusions in hereditary iron overload disease
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4. The mitochondrial proteins Atmlp and Nfslp are essential for biogenesis of cytosolic Fe/S proteins
5. An ABC transporter in the mitochondrial inner membrane is required for normal growth of yeast
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7. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis
8. Molecular genetics of the Finnish disease heritage
9. Pathology of lethal fetal growth retardation syndrome with aminoaciduria iron overload, and lactic acidosis (GRACILE)
10. A mutation in a mitochondrial ABC transporter results in mitochondrial dysfunction through oxidative damage of mitochondrial DNA
11. Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37