Pearson syndrome and the role of deletion dimers and duplications in the mtDNA

Journal of Inherited Metabolic Disease

Volumn 27, Issue 1, 2004, Pages 47-55

  Jacobs, L J A M ^a   Jongbloed, R J E ^a   Wijburg, F A ^b   de Klerk, J B C ^c   Geraedts, J P M ^a   Nijland, J G ^a   Scholte, H R ^c   de Coo, I F M ^c   Smeets, H J M ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIMER; MITOCHONDRIAL DNA; NUCLEOTIDE;

ARTICLE; BLOOD; CASE REPORT; CHILD; DATA ANALYSIS; DEATH; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; LACTIC ACIDOSIS; LIFE EXPECTANCY; LIVER; MUSCLE TISSUE; PEARSON SYNDROME; PHENOTYPE; POLYMERASE CHAIN REACTION; REMISSION; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

ANEMIA; BONE MARROW DISEASES; CHILD; CHILD, PRESCHOOL; DIMERIZATION; DNA, MITOCHONDRIAL; FATAL OUTCOME; FEMALE; FIBROSIS; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENOTYPE; HUMANS; PANCREATIC DISEASES; PHENOTYPE; SYNDROME;

EID: 1842433769     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000016601.49372.18     Document Type: Article

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