Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "FIORE, Mathieu"
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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
PENNAMEN, Perrine; LE, Linh; TINGAUD-SEQUEIRA, Angele ...(Genetics in Medicine. vol. 22, n° 10, pp. 1613-1622, 2020-10-01)Article de revue -
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.
MICHAUD, Vincent; FIORE, Mathieu; COSTE, Valentine ...(Platelets. vol. 32, n° 3, pp. 420-423, 2021-04-03)Article de revue -
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies
MICHAUD, Vincent; FIORE, Mathieu; COSTE, Valentine ...(Platelets. vol. 32, n° 3, pp. 420-423, 2021)Article de revue