RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
- Resource Type
- Article
- Authors
- Paul, Franziska; Ng, Calista; Sahari, Umar Bin Mohamad; Nafissi, Shahriar; Nilipoor, Yalda; Tavasoli, Ali Reza; Bonnard, Carine; Wong, Pui-Mun; Nabavizadeh, Nasrinsadat; Altunoğlu, Umut; Estiar, Mehrdad A; Majoie, Charles B; Lee, Hane; Nelson, Stanley F; Gan-Or, Ziv; Rouleau, Guy A; Veldhoven, Paul P Van; Massie, Rami; Hennekam, Raoul C; Kariminejad, Ariana
- Source
- Human Molecular Genetics; Nov2022, Vol. 31 Issue 21, p3729-3740, 12p
- Subject
- Language
- ISSN
- 09646906