UBE3A 'mutations' in two unrelated and phenotypically different Angelman syndrome patients

Human Genetics

Volumn 102, Issue 4, 1998, Pages 487-492

  Fung, David C Y ^a   Yu, Bing ^a   Cheong, K F ^a   Smith, Arabella ^b   Trent, R J ^a  

^a ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; POLYADENYLIC ACID; UBIQUITIN PROTEIN LIGASE;

ARTICLE; ATAXIA; CHILD; CLINICAL ARTICLE; COMMUNICATION DISORDER; CONTROLLED STUDY; DNA FLANKING REGION; DNA POLYMORPHISM; ELECTROENCEPHALOGRAM; EPILEPSY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENOME IMPRINTING; HAPLOTYPE; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRIORITY JOURNAL; RECURRENCE RISK; SIBLING;

ANGELMAN SYNDROME; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LIGASES; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; UBIQUITIN-PROTEIN LIGASES;

ATAXIA;

EID: 0031898968     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050727     Document Type: Article

References (21)

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