Mitochondrial DNA copy number differentiates the leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers

Brain

Volumn 139, Issue 1, 2016, Pages e1-

  Bianco, Angelica ^a   Martínez Romero, Iñigo ^b   Bisceglia, Luigi ^c   D'Agruma, Leonardo ^c   Favia, Paola ^a   Ruiz Pesini, Eduardo ^b   Guerriero, Silvana ^a   Montoya, Julio ^b   Petruzzella, Vittoria ^a  

^a UNIVERSITY OF BARI   (Italy)

^b UNIVERSITY OF ZARAGOZA   (Spain)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ALLELE; BLOOD SAMPLING; DISEASE SEVERITY; GENE DOSAGE; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; LETTER; MITOCHONDRIAL DNA REPLICATION; PREVALENCE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SEX RATIO; FEMALE; GENETICS; MALE; MITOCHONDRIAL DYNAMICS; OPTIC ATROPHY, HEREDITARY, LEBER; PENETRANCE;

DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MITOCHONDRIAL TURNOVER; OPTIC ATROPHY, HEREDITARY, LEBER; PENETRANCE;

EID: 84964674962     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv216     Document Type: Letter

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