Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

Journal of Medical Genetics

Volumn 38, Issue 1, 2001, Pages 26-34

  Ungaro, P ^a   Christian, S L ^a   Fantes, J A ^a   Mutirangura, A ^b   Black, S ^c   Reynolds, J ^d   Malcolm, S ^e   Dobyns, W B ^a   Ledbetter, D H ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b CHULALONGKORN UNIVERSITY   (Thailand)

^c GENETICS AND IVF INSTITUTE   (United States)

^d Shodair   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Angelman syndrome; Autism; Chromosome 15 triplication; Prader Willi syndrome

Indexed keywords

CHROMOSOME PROTEIN; PROTEIN SNRPN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC POLYMORPHISM; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; MENTAL DEFICIENCY; METHYLATION; MOLECULAR GENETICS; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROTEIN EXPRESSION; STRUCTURAL CHROMOSOME ABERRATION;

EID: 0035136724     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.1.26     Document Type: Article

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