A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

PLoS Genetics

Volumn 12, Issue 1, 2016, Pages

  Kohda, Masakazu ^a   Tokuzawa, Yoshimi ^a   Kishita, Yoshihito ^a   Nyuzuki, Hiromi ^a   Moriyama, Yohsuke ^a   Mizuno, Yosuke ^a   Hirata, Tomoko ^a   Yatsuka, Yukiko ^a   Yamashita Sugahara, Yzumi ^a   Nakachi, Yutaka ^a   Kato, Hidemasa ^a   Okuda, Akihiko ^a   Tamaru, Shunsuke ^a   Borna, Nurun Nahar ^a   Banshoya, Kengo ^a,b   Aigaki, Toshiro ^c   Sato Miyata, Yukiko ^c   Ohnuma, Kohei ^c   Suzuki, Tsutomu ^d   Nagao, Asuteka ^d   Maehata, Hazuki ^d   Matsuda, Fumihiko ^e   Higasa, Koichiro ^e   Nagasaki, Masao ^f,g   Yasuda, Jun ^f,g   Yamamoto, Masayuki ^f,g   Fushimi, Takuya ^h   Shimura, Masaru ^h   Kaiho Ichimoto, Keiko ^h   Harashima, Hiroko ^a   Yamazaki, Taro ^a   Mori, Masato ⁱ   Murayama, Kei ^h   Ohtake, Akira ^a   Okazaki, Yasushi ^a   more..

^a SAITAMA MEDICAL UNIVERSITY   (Japan)

^b CHEMICALS EVALUATION AND RESEARCH INSTITUTE   (Japan)

^c TOKYO METROPOLITAN UNIVERSITY   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f TOHOKU UNIVERSITY   (Japan)

^g TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^h Chiba Children s Hospital   (Japan)

ⁱ Matsudo City Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ALAS2 GENE; ARTICLE; BOLA3 GENE; C1QBP1 GENE; CARDIOMYOPATHY; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; COHORT ANALYSIS; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENTEROPATHY; EXOME; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; LEIGH DISEASE; LETHAL INFANTILE MITOCHONDRIAL DISORDER; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; MECP2 GENE; MITOCHONDRIAL GENE; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX DEFICIENCY; MRPS23 GENE; NDUFB11 GENE; NON LETHAL INFANTILE MITOCHONDRIAL DISORDER; NONHUMAN; PATHOGENESIS; PNPLA4 GENE; QRSL1 GENE; SHORT STATURE; SLC25A26 GENE; SUDDEN DEATH; TNNI3 GENE; CHILD; FIBROBLAST; GENETIC HETEROGENEITY; GENETICS; INDEL MUTATION; INFANT; MITOCHONDRIAL DISEASES; MITOCHONDRION; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; DNA, MITOCHONDRIAL; EXOME; FEMALE; FIBROBLASTS; GENETIC HETEROGENEITY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDEL MUTATION; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84958018431     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1005679     Document Type: Article

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