Author/Editor | Fakin, Ana; Zupan, Andrej; Glavač, Damjan; Hawlina, Marko | |
Title | Retinitis pigmentosa and deafness as a result of novel Leu130Pro mutation in PRPH2 gene and most common homozygous deletion 35delG in Gjb2 gene; differential diagnosis of Usher syndome | |
Type | članek | |
Source | In: Hudler P, Videtič-Paska A, editors. Molekularna medicina in biotehnologija. Simpozij z mednarodno udeležbo ob 40. obletnici Inštituta za biokemijo in 20. obletnici Medicinskega centra za molekularno biologijo; 2012 jun 27-29; Ljubljana. Ljubljana: Inštitut za biokemijo, | |
Publication year | 2012 | |
Volume | str. 68 | |
Language | eng |