Avoidance of pseudogene interference in the detection of 3' deletions in PMS2

Human Mutation

Volumn 32, Issue 9, 2011, Pages 1063-1071

  Vaughn, Cecily P ^a   Hart, Kimberly J ^b   Samowitz, Wade S ^a,c   Swensen, Jeffrey J ^a,c  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^b ARUP LABORATORIES   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Deletion detection; Lynch syndrome; PMS2; PMS2CL; Pseudogenes

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; COPY NUMBER VARIATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; METHODOLOGY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOGENE; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADENOSINE TRIPHOSPHATASES; ALGORITHMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; EXONS; GENE DUPLICATION; HUMANS; MULTIPLEX POLYMERASE CHAIN REACTION; PSEUDOGENES; SEQUENCE DELETION; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 80051702522     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21540     Document Type: Article

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