Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy

Neuromuscular Disorders

Volumn 22, Issue 5, 2012, Pages 394-400

  Lim, Young Min ^a   Koh, InSong ^b   Park, Young Mi ^a   Kim, Jae Jung ^a   Kim, Dae Seong ^c   Kim, Hyo Jin ^a   Baik, Kyu Heum ^d   Choi, Hye Yeon ^d   Yang, Gap Seok ^d   Also Rallo, Eva ^e   Tizzano, Eduardo F ^e   Gamez, Josep ^f   Park, Kiejung ^g   Yoo, Han Wook ^a   Lee, Jong Keuk ^a   Kim, Kwang Kuk ^a  

^a University of Ulsan College of Medicine   (South Korea)

^b Hanyang University   (South Korea)

^c Pusan National University Yangsan Hospital   (South Korea)

^d Macrogen Inc   (South Korea)

^e HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^f HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^g Korea National Institute of Health   (South Korea)

Author keywords

C5orf42; Exome sequencing; KIAA1377; Monomelic amyotrophy

Indexed keywords

ADULT; ARTICLE; C5ORF42 GENE; CONTROLLED STUDY; DISEASE COURSE; DISEASE DURATION; ETHNIC GROUP; EXOME; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; KIAA1377 GENE; MALE; MUSCLE ATROPHY; PRIORITY JOURNAL; RISK FACTOR; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; EXOME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; YOUNG ADULT;

EID: 84862784750     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.11.006     Document Type: Article

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