Analysis of candidate imprinted genes in PWS subjects with atypical genetics: A possible inactivating mutation in the SNURF/SNRPN minimal promoter

Journal of Human Genetics

Volumn 52, Issue 4, 2007, Pages 297-307

  Maina, Esther N ^a   Webb, Tessa ^a   Soni, Sarita ^b   Whittington, Joyce ^b   Boer, Harm ^c   Clarke, David ^c   Holland, Anthony ^b  

^a BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c Department for Children Young People and Their Families   (United Kingdom)

Author keywords

Deletion; Gene expression; PWS; SNRPN minimal promoter mutation; UPD

Indexed keywords

NECDIN; PROTEIN; PROTEIN SNRPN; PROTEIN SNURF; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 15; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; PRADER WILLI SYNDROME; PROMOTER REGION;

AUTOANTIGENS; CHROMOSOMES, HUMAN, PAIR 15; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; GENE SILENCING; GENOMIC IMPRINTING; HUMANS; MUTATION; NUCLEAR PROTEINS; PRADER-WILLI SYNDROME; PROMOTER REGIONS (GENETICS); RIBONUCLEOPROTEINS, SMALL NUCLEAR;

EID: 33947650503     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0109-6     Document Type: Article

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