Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Af Roux (1) , V. Faugere , S. Le Guedard (1) , N. Pallares Ruiz , A. Vielle , S. Chambert , S. Marlin , C. Hamel , B. Gilbert , S. Malcolm , M. Claustres (1)

1 IGH - Institut de génétique humaine

Domaines: Génétique humaine

Af Roux, V. Faugere, S. Le Guedard, N. Pallares Ruiz, A. Vielle, et al.. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.. Journal of Medical Genetics, 2006, 43, pp.763-768. ⟨10.1136/jmg.2006.041954⟩. ⟨hal-00113441⟩