A novel UBε3A truncating mutation in large tunisian angelman syndrome pedigree

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 141-146

  Abaied, L ^a   Trabelsi, M ^a   Chaabouni, M ^a,b   Kharrat, M ^a   Kraoua, L ^b   M'rad, R ^a,b   Tebib, N ^c   Maazoul, F ^b   Chaabouni, H ^a,b  

^a UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^b CHARLES NICOLLE HOSPITAL   (Tunisia)

^c LA RABTA HOSPITAL   (Tunisia)

Author keywords

Angelman syndrome; Mutation; Phenotype; UBE3A

Indexed keywords

UBIQUITIN PROTEIN LIGASE E3; UBIQUITIN PROTEIN LIGASE E3A; UNCLASSIFIED DRUG; PRIMER DNA; UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADULT; ARTICLE; BEHAVIOR DISORDER; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME INSERTION; CLINICAL ARTICLE; CONSANGUINITY; DNA METHYLATION; EPILEPSY; EXON; FAMILY ASSESSMENT; FEMALE; FRAMESHIFT MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; HUMAN TISSUE; INDEL MUTATION; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MOTOR DYSFUNCTION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SPEECH DISORDER; TUNISIA; ETHNIC GROUP; FAMILY STUDY; GENE DELETION; GENE EXPRESSION; GENE INSERTION; PEDIGREE; ENZYME ACTIVE SITE; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE;

ANGELMAN SYNDROME; BASE SEQUENCE; CATALYTIC DOMAIN; DNA PRIMERS; EXONS; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; TUNISIA; UBIQUITIN-PROTEIN LIGASES;

EID: 75149115075     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33179     Document Type: Article

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