The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement

American Journal of Human Genetics

Volumn 91, Issue 2, 2012, Pages 320-329

  Ishiura, Hiroyuki ^a   Sako, Wataru ^c   Yoshida, Mari ^d   Kawarai, Toshitaka ^c   Tanabe, Osamu ^c,e   Goto, Jun ^a   Takahashi, Yuji ^a   Date, Hidetoshi ^a   Mitsui, Jun ^a   Ahsan, Budrul ^a   Ichikawa, Yaeko ^a   Iwata, Atsushi ^a   Yoshino, Hiide ^f   Izumi, Yuishin ^c   Fujita, Koji ^c   Maeda, Kouji ^c   Goto, Satoshi ^c   Koizumi, Hidetaka ^c   Morigaki, Ryoma ^c   Ikemura, Masako ^a   Yamauchi, Naoko ^a   Murayama, Shigeo ^g   Nicholson, Garth A ^h   Ito, Hidefumi ⁱ   Sobue, Gen ^j   Nakagawa, Masanori ^k   Kaji, Ryuji ^c   Tsuji, Shoji ^a,b,l   more..

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO HOSPITAL   (Japan)

^c UNIVERSITY OF TOKUSHIMA   (Japan)

^d AICHI MEDICAL UNIVERSITY   (Japan)

^e UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^f Yoshino Neurology Clinic   (Japan)

^g TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^h UNIVERSITY OF SYDNEY   (Australia)

ⁱ KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^j NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^k KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^l NATIONAL INSTITUTE OF GENETICS   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HYBRID PROTEIN; TAR DNA BINDING PROTEIN; TRK FUSED GENE PROTEIN; UBIQUITIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOPSY; CELL INCLUSION; CHROMOSOME 3Q; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOPLASM; EXOME; FEMALE; GENE SEQUENCE; GENETIC LINKAGE; GOLGI COMPLEX; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MOTONEURON; MUTATIONAL ANALYSIS; NERVE DEGENERATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPINAL CORD NERVE CELL;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 3; DNA-BINDING PROTEINS; EXOME; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GOLGI APPARATUS; HAPLOTYPES; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; INCLUSION BODIES; JAPAN; MOLECULAR SEQUENCE DATA; MOTOR NEURONS; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84864946347     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.07.014     Document Type: Article

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