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Title: Detection of imprinting mutations in Angelman syndrome using a probe for exon {alpha} of SNRPN

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct clinical disorders resulting from deficiency of paternal (PWS) or maternal (AS) expression of imprinted genes within chromosome 15q11-q13. 15 refs., 1 fig.
Authors:
; ;  [1]
  1. Baylor College of Medicine, Houston, TX (United States) [and others
Publication Date:
OSTI Identifier:
539196
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 63; Journal Issue: 2; Other Information: PBD: 17 May 1996
Sponsoring Org:
USDOE
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; GENETICS; HUMAN CHROMOSOME 1; GENETIC MAPPING; GENE MUTATIONS; DETECTION; GENES; GENE REGULATION; TRANSCRIPTION; METHYLATION; DNA SEQUENCING; DNA-CLONING; PROBES; NUCLEOTIDES; DNA HYBRIDIZATION