Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

American Journal of Human Genetics

Volumn 92, Issue 3, 2013, Pages 375-386

  Chen, Xiaoli ^a,b,c   Shen, Yiping ^b,c,d,e   Zhang, Feng ^f   Chiang, Colby ^b   Pillalamarri, Vamsee ^b   Blumenthal, Ian ^b   Talkowski, Michael ^b,e,g   Wu, Bai Lin ^c,e,f   Gusella, James F ^b,e,g  

^a CAPITAL INSTITUTE OF PEDIATRICS   (China)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^e HARVARD MEDICAL SCHOOL   (United States)

^f FUDAN UNIVERSITY   (China)

^g BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NEUREXIN; NEUREXIN 1; SINGLE STRANDED DNA; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ALU SEQUENCE; ARTICLE; AUTISM; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST ACCURACY STUDY; DNA REPLICATION; DNA STRUCTURE; GENE DELETION; GENE MAPPING; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENOMIC INSTABILITY; HUMAN; INVERTED REPEAT; LONG INTERSPERSED REPEAT; LONG TERMINAL REPEAT; MAJOR CLINICAL STUDY; MEME SEQUENCE; MOLECULAR GENETICS; PRIORITY JOURNAL;

CELL ADHESION MOLECULES, NEURONAL; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; DNA REPLICATION; DNA, B-FORM; DNA, SINGLE-STRANDED; EXONS; GENETIC PREDISPOSITION TO DISEASE; GENOMIC INSTABILITY; HUMANS; INVERTED REPEAT SEQUENCES; MENTAL DISORDERS; NERVE TISSUE PROTEINS; SEQUENCE DELETION; TERMINAL REPEAT SEQUENCES;

EID: 84876374695     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.02.006     Document Type: Article

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