Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons

Human Mutation

Volumn 29, Issue 1, 2008, Pages 106-112

  Schimpf, Simone ^a   Fuhrmann, Nico ^a   Schaich, Simone ^a   Wissinger, Bernd ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

adOA; Autosomal dominant optic atrophy; cDNA analysis; Nonsense mediated mRNA decay; OPA1

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CONTROLLED STUDY; DNA DETERMINATION; EXON; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; OPA1 GENE; PATHOGENESIS; PRIORITY JOURNAL; PYROSEQUENCING; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

ALLELES; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; GTP PHOSPHOHYDROLASES; HUMANS; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; VARIATION (GENETICS);

EID: 38149058202     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20607     Document Type: Article

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