Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Nature Genetics

Volumn 42, Issue 9, 2010, Pages 790-793

  Ng, Sarah B ^a   Bigham, Abigail W ^b   Buckingham, Kati J ^b   Hannibal, Mark C ^b,c   McMillin, Margaret J ^b   Gildersleeve, Heidi I ^b   Beck, Anita E ^b,c   Tabor, Holly K ^b,c   Cooper, Gregory M ^a   Mefford, Heather C ^b   Lee, Choli ^a   Turner, Emily H ^a   Smith, Joshua D ^a   Rieder, Mark J ^a   Yoshiura, Koh Ichiro ^d   Matsumoto, Naomichi ^e   Ohta, Tohru ^f   Niikawa, Norio ^f   Nickerson, Deborah A ^a   Bamshad, Michael J ^a,b,c   Shendure, Jay ^a   more..

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^e YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; MLL2 PROTEIN, HUMAN; TUMOR PROTEIN;

ARTICLE; DNA SEQUENCE; GENE FREQUENCY; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; HUMAN; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; MUTATION; PHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME; VALIDATION STUDY;

ABNORMALITIES, MULTIPLE; DNA-BINDING PROTEINS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); MUTATION; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SYNDROME; VALIDATION STUDIES AS TOPIC;

EID: 77956642100     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.646     Document Type: Letter

References (14)

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