Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

American Journal of Human Genetics

Volumn 76, Issue 1, 2005, Pages 52-67

  Visser, Remco ^a,b,c,d,e   Shimokawa, Osamu ^a,b,e   Harada, Naoki ^a,b,e   Kinoshita, Akira ^a,e   Ohta, Tohru ^b,e,f   Niikawa, Norio ^a,e   Matsumoto, Naomichi ^d,e  

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

^b NAGASAKI UNIVERSITY   (Japan)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

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

^e JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^f HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME; CLINICAL ARTICLE; CRANIOFACIAL DEVELOPMENT; DLCR 2B GENE; DLCR GENE; EVOLUTION; FACE DYSMORPHIA; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENE MUTATION; GENETIC IDENTIFICATION; GENOME; HAPLOIDY; HETEROZYGOSITY; HUMAN; HUMAN CELL; LOW COPY REPEAT; MENTAL RETARDATION MALFORMATION SYNDROME; MONKEY; NSD1 GENE; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PLCR B GENE; PLCR GENE; POLYMERASE CHAIN REACTION; PRIMATE; PRIORITY JOURNAL; PROTEIN MOTIF; RECOMBINANT ASSOCIATED MOTIF; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SOTOS SYNDROME; STATISTICAL SIGNIFICANCE; TRANSLIN MOTIF;

CERCOPITHECIDAE; PRIMATES;

EID: 11144278605     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/426950     Document Type: Article

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