Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with charcot-marie-tooth disease

PLoS Genetics

Volumn 6, Issue 8, 2010, Pages

  Guernsey, Duane L ^a   Jiang, Haiyan ^a   Bedard, Karen ^a   Evans, Susan C ^a   Ferguson, Meghan ^b   Matsuoka, Makoto ^a   Macgillivray, Christine ^a   Nightingale, Mathew ^a   Perry, Scott ^a   Rideout, Andrea L ^b   Orr, Andrew ^a   Ludman, Mark ^b   Skidmore, David L ^b   Benstead, Timothy ^a   Samuels, Mark E ^a,c  

^a DALHOUSIE UNIVERSITY   (Canada)

^b IWK HEALTH CENTRE   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GUANINE; LEUCINE RICH REPEAT AND STERILE ALPHA MOTIF 1; LIGASE; NUCLEOTIDE; PROTEIN; RNA; UBIQUITIN PROTEIN LIGASE LRSAM1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD ANALYSIS; CANADA; CELL ADHESION; CELL IMMORTALIZATION; CHROMOSOME 9; DEGENERATIVE DISEASE; DNA SEQUENCE; EXON; FAMILY STUDY; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; INTRON; MEMBRANE VESICLE; NERVE CELL; NERVE CELL CULTURE; RNA ANALYSIS; RNA SPLICING; RURAL POPULATION; SENSORIMOTOR NEUROPATHY; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING;

BASE SEQUENCE; CANADA; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; RNA SPLICING; UBIQUITIN-PROTEIN LIGASES;

EID: 77957375932     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1001081     Document Type: Article

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