A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with angelman syndrome

Chinese Medical Journal

Volumn 124, Issue 1, 2011, Pages 84-88

  Bai, Jin Li ^a   Qu, Yu Jin ^a   Zou, Li Ping ^b   Yang, Xin Ying ^c   Liu, Li Jun ^a   Song, Fang ^a  

^a CAPITAL INSTITUTE OF PEDIATRICS   (China)

^b CHINESE PLA GENERAL HOSPITAL   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Angelman syndrome; Mutation; Ubiquitin protein ligase E3A

Indexed keywords

COMPLEMENTARY DNA; UBIQUITIN PROTEIN LIGASE E3; UBIQUITIN PROTEIN LIGASE E3A; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CHILD; CHINESE; CHROMOSOME 15Q; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FAMILY HISTORY; FEMALE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HAPPY PUPPET SYNDROME; HUMAN; INHERITANCE; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROMOTER REGION; SEQUENCE ANALYSIS; SHORT TANDEM REPEAT;

ANGELMAN SYNDROME; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; HUMANS; MICROSATELLITE REPEATS; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; UBIQUITIN-PROTEIN LIGASES;

EID: 78651252942     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2011.01.016     Document Type: Article

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