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 article

Peer reviewed

Af Roux, V. Faugere, S. Le Guedard, N. Pallares Ruiz, A. Vielle, S. Chambert, S. Marlin, C. Hamel, B. Gilbert, S. Malcolm, …

Journal of Medical Genetics, Vol.43, pp.763-768

2006

PMCID: PMC2564578

PMID: 16679490

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Title: 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%.
Creators - without role: Af Roux - Université de Montpellier, Institut de Génétique Humaine - IGH
V. Faugere
S. Le Guedard - Université de Montpellier, Institut de Génétique Humaine - IGH
N. Pallares Ruiz
A. Vielle
S. Chambert
S. Marlin
C. Hamel
B. Gilbert
S. Malcolm
M. Claustres - Université de Montpellier, Institut de Génétique Humaine - IGH
Publication Details: Journal of Medical Genetics, Vol.43, pp.763-768
Identifiers: 9943363909311
Academic Unit: Institut de Génétique Humaine - IGH
Language: English
Resource Type: Journal article
Local Fields: hal-00113441