Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Genome Medicine

Volumn 5, Issue 7, 2013, Pages

  Wang, Kai ^a,b   Kim, Cecilia ^b   Bradfield, Jonathan ^b   Guo, Yunfei ^a   Toskala, Elina ^b   Otieno, Frederick G ^b   Hou, Cuiping ^b   Thomas, Kelly ^b   Cardinale, Christopher ^b   Lyon, Gholson J ^b,c   Golhar, Ryan ^b   Hakonarson, Hakon ^b,d  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GENOMIC RNA; PROTEIN; RBCK1 PROTEIN; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; CARDIOMYOPATHY; DNA SEQUENCE; EXOME; EXON; GENE MUTATION; GENOME; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 4; HOMOZYGOSITY; HUMAN; INTELLIGENCE; MUSCLE WEAKNESS; PHENOTYPE; PRIORITY JOURNAL; RNA SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84880934152     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm471     Document Type: Article

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