Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification

Biochimica et Biophysica Acta - General Subjects

Volumn 1840, Issue 4, 2014, Pages 1355-1359

  Ohtake, A ^a   Murayama, K ^b   Mori, M ^c   Harashima, H ^a   Yamazaki, T ^a   Tamaru, S ^a   Yamashita, Y ^a   Kishita, Y ^a   Nakachi, Y ^a   Kohda, M ^a   Tokuzawa, Y ^a   Mizuno, Y ^a   Moriyama, Y ^a   Kato, H ^a   Okazaki, Y ^a  

^a SAITAMA MEDICAL UNIVERSITY   (Japan)

^b CHIBA CHILDREN'S HOSPITAL   (Japan)

^c JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

Blue native polyacrylamide gel; Electrophoresis; Exome sequencing; Mitochondrial respiratory chain disorder; Narrowing down protocol

Indexed keywords

ADENOSINE TRIPHOSPHATE;

AMINO ACID SUBSTITUTION; ARTICLE; BIOINFORMATICS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; EXOME ANALYSIS; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MITOCHONDRIAL RESPIRATORY CHAIN DISORDER; MOLECULAR DIAGNOSIS; MOLECULAR DYNAMICS; PRIORITY JOURNAL; PROTEOMICS; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

BLUE NATIVE POLYACRYLAMIDE GEL; ELECTROPHORESIS; EXOME SEQUENCING; MITOCHONDRIAL RESPIRATORY CHAIN DISORDER; NARROWING DOWN PROTOCOL;

CELL NUCLEUS; EXOME; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MICROARRAY ANALYSIS; MITOCHONDRIAL DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84895550344     PISSN: 03044165     EISSN: 18728006     Source Type: Journal    
DOI: 10.1016/j.bbagen.2014.01.025     Document Type: Article

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