Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome

  1. Perdomo-Ramirez, A.
  2. Antón-Gamero, M.
  3. Rizzo, D.S.
  4. Trindade, A.
  5. Ramos-Trujillo, E.
  6. Claverie-Martin, F.
Revue:
Intractable and Rare Diseases Research

ISSN: 2186-361X 2186-3644

Année de publication: 2020

Volumen: 9

Número: 4

Pages: 222-228

Type: Article

DOI: 10.5582/IRDR.2020.03092 GOOGLE SCHOLAR lock_openAccès ouvert editor