Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)

American Journal of Human Genetics

Volumn 74, Issue 6, 2004, Pages 1303-1308

  Bykhovskaya, Yelena ^a   Casas, Kari ^a   Mengesha, Emebet ^a   Inbal, Aida ^b   Fischel Ghodsian, Nathan ^a  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL RNA; PSEUDOURIDINE; PSEUDOURIDINE SYNTHASE 1; RNA; SYNTHETASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW; BRAIN; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENETIC POLYMORPHISM; HEART; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; LIVER; MISSENSE MUTATION; MITOCHONDRIAL MYOPATHY; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PUS1 GENE; SEQUENCE ANALYSIS; SIDEROBLASTIC ANEMIA; SKELETAL MUSCLE; TISSUE SPECIFICITY;

EID: 2442691791     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/421530     Document Type: Article

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