Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies
TMEM17第二个跨膜结构域的错义变异会破坏其稳定性和功能,并导致广泛的纤毛病表型谱。
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.70042
Boutaud, Lucile; Li, Chunmei; Moncler, Candice; Verlin, Laure; Garfa-Traoré, Meriem; Bourgon, Nicolas; Akbari, Dhruvin; Porée, Jeanne; Serpieri, Valentina; Panza, Marine; Haddad, Lynda; Nitschké, Patrick; Aziza, Jacqueline; Matt, Cristina; Valente, Enza Maria; Gargallo, Patricia; Dubucs, Charlotte; Attié-Bitach, Tania; Leroux, Michel R; Thomas, Sophie