A Mutation of COX6A1 causes a recessive axonal or mixed form of charcot-marie-tooth disease

American Journal of Human Genetics

Volumn 95, Issue 3, 2014, Pages 294-300

  Tamiy, Gen ^a   Makino, Satoshi ^a   Hayashi, Makiko ^a   Abe, Akiko ^a   Numakura, Chikahiko ^a   Ueki, Masao ^a   Tanaka, Atsushi ^b   Ito, Chizuru ^b   Toshimori, Kiyotaka ^c   Ogawa, Nobuhiro ^c   Terashima, Tomoya ^c   Maegawa, Hiroshi ^c   Yanagisawa, Daijiro ^d   Tooyama, Ikuo ^d   Tada, Masayoshi ^a   Onodera, Osamu ^a   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b CHIBA UNIVERSITY   (Japan)

^c SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^d NIIGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; CYTOCHROME C OXIDASE SUBUNIT VIA POLYPEPTIDE 1; POLYPEPTIDE; UNCLASSIFIED DRUG; COX6A1 PROTEIN, HUMAN; COX6A1 PROTEIN, MOUSE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AXONAL INJURY; CONSANGUINITY; CONTROLLED STUDY; EPSTEIN BARR VIRUS; FEMALE; GENE EXPRESSION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; INTRON; LEUKOCYTE; LINKAGE ANALYSIS; LYMPHOBLASTOID CELL LINE; MALE; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; WALKING DIFFICULTY; ADULT; ANIMAL; ELECTROPHYSIOLOGY; GENETICS; HUMAN; KNOCKOUT MOUSE; MUSCLE ATROPHY; MUTATION; NERVE FIBER; PEDIGREE; PHYSIOLOGY; RECESSIVE GENE;

HUMAN HERPESVIRUS 4; MUS;

ADULT; ANIMALS; AXONS; CHARCOT-MARIE-TOOTH DISEASE; CONSANGUINITY; ELECTRON TRANSPORT COMPLEX IV; ELECTROPHYSIOLOGY; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; HUMANS; LOD SCORE; MALE; MICE; MICE, KNOCKOUT; MUSCULAR ATROPHY; MUTATION; PEDIGREE; PHENOTYPE; RNA SPLICING;

EID: 84908238090     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.07.013     Document Type: Article

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