Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome.

Human mutation

Volumn 15, Issue 4, 2000, Pages 387-

  Russo, S ^a   Cogliati, F ^a   Viri, M ^a   Cavalleri, F ^a   Selicorni, A ^a   Turolla, L ^a   Belli, S ^a   Romeo, A ^a   Larizza, L ^a  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LIGASE; MICROSATELLITE DNA; UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; ENZYMOLOGY; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETICS; HAPPY PUPPET SYNDROME; HUMAN; ITALY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; ANGELMAN SYNDROME; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; HUMANS; ITALY; LIGASES; MALE; MICROSATELLITE REPEATS; MUTATION, MISSENSE; UBIQUITIN-PROTEIN LIGASES;

EID: 0034164590     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU25>3.0.CO;2-W     Document Type: Article

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