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Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
Pennamen, Perrine; Tingaud-Sequeira, Angèle; Michaud, Vincent; Morice-Picard, Fanny; Plaisant, Claudio; Vincent-Delorme, Catherine; Giuliano, Fabienne; Azarnoush, Saba; Capri, Yline; Marçon, Carolina; Lacombe, Didier; Lasseaux, Eulalie; Arveiler, Benoît.
Afiliación
  • Pennamen P; Maladies Rares: Génétique et Métabolisme (MRGM), Univ. Bordeaux, INSERM U1211, Bordeaux, France.
  • Tingaud-Sequeira A; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Michaud V; Maladies Rares: Génétique et Métabolisme (MRGM), Univ. Bordeaux, INSERM U1211, Bordeaux, France.
  • Morice-Picard F; Maladies Rares: Génétique et Métabolisme (MRGM), Univ. Bordeaux, INSERM U1211, Bordeaux, France.
  • Plaisant C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Vincent-Delorme C; Immuno-Dermatology ATIP-AVENIR, BMGIC, Univ. Bordeaux, INSERM 1035, Bordeaux, France.
  • Giuliano F; Pediatric Dermatology Unit, National Reference Center for Rare Skin Disorders, CHU Bordeaux, Bordeaux, France.
  • Azarnoush S; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Capri Y; Department of Clinical Genetics, CHU Lille, Lille, France.
  • Marçon C; Unit of Medical Genetics, L'Archet 2 Hospital, University Hospital of Nice, Nice, France.
  • Lacombe D; Clinical Department of Immuno-Hematology, CHU Robert Debré, Paris University, Paris, France.
  • Lasseaux E; Service de génétique médicale, AP-HP Robert-Debré, Paris, France.
  • Arveiler B; Setor de Dermatologia, Santa Casa de Misericordia, Sao Paolo, Brazil.
Pigment Cell Melanoma Res ; 34(1): 132-135, 2021 01.
Article en En | MEDLINE | ID: mdl-32687635
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Portadoras / Síndrome de Hermanski-Pudlak / Mutación Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Pigment Cell Melanoma Res Asunto de la revista: NEOPLASIAS Año: 2021 Tipo del documento: Article País de afiliación: Francia
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Portadoras / Síndrome de Hermanski-Pudlak / Mutación Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Pigment Cell Melanoma Res Asunto de la revista: NEOPLASIAS Año: 2021 Tipo del documento: Article País de afiliación: Francia