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A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.
Sanyoura, May; Woudstra, Cédric; Halaby, George; Baz, Patrick; Senée, Valérie; Guillausseau, Pierre-Jean; Zalloua, Pierre; Julier, Cécile.
Afiliación
  • Sanyoura M; 1] Inserm UMR-S958, Medical Faculty Paris 7, site Villemin, Paris, France [2] University Paris 7 Denis-Diderot, Paris, France.
  • Woudstra C; 1] Inserm UMR-S958, Medical Faculty Paris 7, site Villemin, Paris, France [2] University Paris 7 Denis-Diderot, Paris, France.
  • Halaby G; Division of Endocrinology, Hôtel Dieu Hospital, Beirut, Lebanon.
  • Baz P; Department of Ophthalmology, Hôtel Dieu Hospital, Beirut, Lebanon.
  • Senée V; 1] Inserm UMR-S958, Medical Faculty Paris 7, site Villemin, Paris, France [2] University Paris 7 Denis-Diderot, Paris, France.
  • Guillausseau PJ; 1] Inserm UMR-S958, Medical Faculty Paris 7, site Villemin, Paris, France [2] University Paris 7 Denis-Diderot, Paris, France [3] AP-HP, Department of Internal Medicine B, Lariboisière Hospital, Paris, France.
  • Zalloua P; Lebanese American University, School of Medicine, Beirut, Lebanon.
  • Julier C; 1] Inserm UMR-S958, Medical Faculty Paris 7, site Villemin, Paris, France [2] University Paris 7 Denis-Diderot, Paris, France.
Eur J Hum Genet ; 22(1): 140-3, 2014 Jan.
Article en En | MEDLINE | ID: mdl-23652376
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas / Isoformas de Proteínas / Diabetes Mellitus Tipo 1 / Síndrome de Alstrom Tipo de estudio: Prognostic_studies Límite: Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas / Isoformas de Proteínas / Diabetes Mellitus Tipo 1 / Síndrome de Alstrom Tipo de estudio: Prognostic_studies Límite: Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Francia