MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Human Mutation

Volumn 32, Issue 2, 2011, Pages

  Paulussen, Aimée D C ^a,b   Stegmann, Alexander P A ^a,b   Blok, Marinus J ^a,b   Tserpelis, Demis ^a   Posma Velter, Crool ^a   Detisch, Yvonne ^a,b   Smeets, Eric E J G L ^a,b   Wagemans, Annemieke ^a   Schrander, Jaap J P ^a   Van Den Boogaard, Marie José H ^c   Van Der Smagt, Jasper ^c   Van Haeringen, Arie ^d   Stolte Dijkstra, Irene ^e   Kerstjens Frederikse, Wilhelmina S ^e   Mancini, Grazia M ^f   Wessels, Marja W ^f   Hennekam, Raoul C M ^g   Vreeburg, Maaike ^a,b   Geraedts, Joep ^a,b   De Ravel, Thomy ^h   Fryns, Jean Pierre ^h   Smeets, Hubert J ^a,b   Devriendt, Koenraad ^h   Schrander Stumpel, Constance T R M ^a,b   more..

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

^h UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Histone methyl transferase; Kabuki syndrome; KS; MLL2

Indexed keywords

MIXED LINEAGE LEUKEMIA PROTEIN; MIXED LINEAGE LEUKEMIA PROTEIN 2; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; KABUKI MAKEUP SYNDROME; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; DNA-BINDING PROTEINS; FACE; FEMALE; HEMATOLOGIC DISEASES; HUMANS; MALE; MUTATION; NEOPLASM PROTEINS; VESTIBULAR DISEASES;

EID: 79551505871     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21416     Document Type: Article

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