Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE

Clinical Genetics

Volumn 84, Issue 3, 2013, Pages 276-280

  Xiao, J ^a   Nance, Ma ^b   Ledoux, Ms ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b Struthers Parkinson's Center   (United States)

Author keywords

Breakpoint; Deletion mutation; Myoclonus dystonia syndrome; Nonsense mediated decay; SGCE

Indexed keywords

COMPLEMENTARY DNA; EPSILON SARCOGLYCAN; ETIRACETAM; RNA; TETRABENAZINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DYSTONIA; EXON; FEMALE; GENE DELETION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; LEUKOCYTE; MALE; MUTATION; MYOCLONUS; NONSENSE MEDIATED MRNA DECAY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION; SCHOOL CHILD;

BREAKPOINT; DELETION MUTATION; MYOCLONUS-DYSTONIA SYNDROME; NONSENSE-MEDIATED DECAY; SGCE;

ADULT; DYSTONIC DISORDERS; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; NONSENSE MEDIATED MRNA DECAY; SARCOGLYCANS; SEQUENCE DELETION;

EID: 84881611918     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12059     Document Type: Article

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