Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

Human Molecular Genetics

Volumn 17, Issue 11, 2008, Pages 1666-1672

  Olsson, Angelica ^a   Lind, Lisbet ^a   Thornell, Lars Eric ^a   Holmberg, Monica ^a  

^a UMEÅ UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; IRON SULPHUR CLUSTER ASSEMBLY PROTEIN; MESSENGER RNA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 12Q; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; GENE EXPRESSION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC RISK; HAPLOTYPE; HUMAN; HUMAN TISSUE; IN VITRO STUDY; IN VIVO STUDY; INTRON; LACTIC ACIDOSIS; MITOCHONDRION; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN SYNTHESIS; RNA SPLICING;

ACIDOSIS, LACTIC; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; ENHANCER ELEMENTS (GENETICS); HUMANS; INTRONS; IRON-SULFUR PROTEINS; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SWEDEN;

EID: 44349149346     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn057     Document Type: Article

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