Guía para el estudio genético de la aniridia

Author:

Blanco-Kelly F.,Villaverde-Montero C.,Lorda-Sánchez I.,Millán J.M.,Trujillo-Tiebas M.J.,Ayuso C.

Publisher

Elsevier BV

Subject

Ophthalmology

Reference64 articles.

1. PAX6 mutations reviewed;Prosser;Hum Mutat,1998

2. Pax6: more than meets the eye;Hanson;Trends Genet,1995

3. Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders;Redeker;Mol Vis,2008

4. Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation;Gimelli;Am J Med Genet A,2010

5. R240X mutation of the PAX6 gene in a Chinese family with congenital aniridia;Wang;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2009

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