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Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.
Moncla, A; Malzac, P; Livet, M O; Voelckel, M A; Mancini, J; Delaroziere, J C; Philip, N; Mattei, J F.
Affiliation
  • Moncla A; Département de Génétique Médicale, Hôpital des Enfants de la Timone, Marseille, France.
J Med Genet ; 36(7): 554-60, 1999 Jul.
Article in En | MEDLINE | ID: mdl-10424818
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 15 / Angelman Syndrome / Genetic Counseling / Ligases / Mutation Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 1999 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 15 / Angelman Syndrome / Genetic Counseling / Ligases / Mutation Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 1999 Document type: Article