PMC Links for OMIM (Select 616152) - PMC

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Items: 3

Select item 55413031.

Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions

Caroline Brandl, Heidi L. Schulz, Peter Charbel Issa, Johannes Birtel, Richard Bergholz, Clemens Lange, Claudia Dahlke, Ditta Zobor, Bernhard H. F. Weber, Heidi Stöhr

Genes (Basel) 2017 Jul; 8(7): 170. Published online 2017 Jun 23. doi: 10.3390/genes8070170

PMCID:: PMC5541303

Abstract Article PDF–4.7M

Select item 37699272.

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Gaël Manes, Isabelle Meunier, Almudena Avila-Fernández, Sandro Banfi, Guylène Le Meur, Xavier Zanlonghi, Marta Corton, Francesca Simonelli, Philippe Brabet, Gilles Labesse, Isabelle Audo, Saddek Mohand-Said, Christina Zeitz, José-Alain Sahel, Michel Weber, Hélène Dollfus, Claire-Marie Dhaenens, Delphine Allorge, Elfride De Baere, Robert K. Koenekoop, Susanne Kohl, Frans P.M. Cremers, Joe G. Hollyfield, Audrey Sénéchal, Maxime Hebrard, Béatrice Bocquet, Carmen Ayuso García, Christian P. Hamel

Am J Hum Genet. 2013 Sep 5; 93(3): 571–578. doi: 10.1016/j.ajhg.2013.07.018

PMCID:: PMC3769927

Abstract Article PDF–887K

Select item 29177193.

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

Dikla Bandah-Rozenfeld, Rob W.J. Collin, Eyal Banin, L. Ingeborgh van den Born, Karlien L.M. Coene, Anna M. Siemiatkowska, Lina Zelinger, Muhammad I. Khan, Dirk J. Lefeber, Inbar Erdinest, Francesco Testa, Francesca Simonelli, Krysta Voesenek, Ellen A.W. Blokland, Tim M. Strom, Caroline C.W. Klaver, Raheel Qamar, Sandro Banfi, Frans P.M. Cremers, Dror Sharon, Anneke I. den Hollander

Am J Hum Genet. 2010 Aug 13; 87(2): 199–208. doi: 10.1016/j.ajhg.2010.07.004