Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

Human Molecular Genetics

Volumn 24, Issue 14, 2015, Pages 4061-4077

  Gu, Shen ^a   Yuan, Bo ^a   Campbell, Ian M ^a   Beck, Christine R ^a   Carvalho, Claudia M B ^a   Nagamani, Sandesh C S ^a,b   Erez, Ayelet ^a,c   Patel, Ankita ^a   Bacino, Carlos A ^a,b   Shaw, Chad A ^a   Stankiewicz, Paweł ^a   Cheung, Sau Wai ^a   Bi, Weimin ^a   Lupski, James R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c WEIZMANN INSTITUTE OF SCIENCE   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALU SEQUENCE; ARTICLE; CHROMOSOME 17P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; GENOMIC INSTABILITY; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ALLELE; CHROMOSOME 17; FEMALE; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETICS; GENOMICS; HOMOLOGOUS RECOMBINATION; HUMAN GENOME; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; SEGMENTAL DUPLICATION;

ALLELES; ALU ELEMENTS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; GENOME, HUMAN; GENOMIC INSTABILITY; GENOMICS; HOMOLOGOUS RECOMBINATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; SEGMENTAL DUPLICATIONS, GENOMIC; SEQUENCE DELETION;

EID: 84936762916     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv146     Document Type: Article

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