A family with 3460G>A and 11778G>A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients

Mitochondrion

Volumn 8, Issue 5-6, 2008, Pages 383-388

  Tonska, Katarzyna ^a   Kurzawa, Marzena ^a,d   Ambroziak, Anna M ^b   Korwin Rujna, Magdalena ^b   Szaflik, Jacek P ^b   Grabowska, Ewa ^a   Szaflik, Jerzy ^b   Bartnik, Ewa ^a,c  

^a UNIVERSITY OF WARSAW   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Double mutation; Leber hereditary optic neuropathy; Mitochondrial DNA

Indexed keywords

MITOCHONDRIAL DNA; STEROID;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; GENE MUTATION; HOMOPLASY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; OPTIC NERVE ATROPHY; OPTIC NEURITIS; PEDIGREE ANALYSIS; POLAND; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINA FLUORESCEIN ANGIOGRAPHY; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADULT; DNA, MITOCHONDRIAL; FEMALE; HAPLOTYPES; HUMANS; MALE; MITOCHONDRIA; OPTIC ATROPHY, HEREDITARY, LEBER; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 54949111639     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2008.08.002     Document Type: Article

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