Publications:

Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.

Investigative Ophthalmology & Visual Science

Farinha, Cláudia C; Barreto, Patrícia P; Coimbra, Rita R; Iutis, Adela A; Cachulo, Maria Luz ML; Cunha-Vaz, José J; Lechanteur, Yara T E YTE; Hoyng, Carel B CB; Silva, Rufino R

Publication Date: 2022-08-02

Variant appearance in text: CFH: Y168X

PubMed Link: 35925583

Variant Present in the following documents:

• iovs-63-9-5_s002.pdf

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Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.

Clinical & Translational Immunology

Willems, Esther E; Lorés-Motta, Laura L; Zanichelli, Andrea A; Suffritti, Chiara C; van der Flier, Michiel M; van der Molen, Renate G RG; Langereis, Jeroen D JD; van Drongelen, Joris J; van den Heuvel, Lambert P LP; Volokhina, Elena E; van de Kar, Nicole Caj NC; Keizer-Garritsen, Jenneke J; Levin, Michael M; Herberg, Jethro A JA; Martinon-Torres, Federico F; Wessels, Hans Jtc HJ; de Breuk, Anita A; Fauser, Sascha S; Hoyng, Carel B CB; den Hollander, Anneke I AI; de Groot, Ronald R; van Gool, Alain J AJ; Gloerich, Jolein J; de Jonge, Marien I MI

Publication Date: 2020

Variant appearance in text: CFH: Tyr168Ter

PubMed Link: 33318796

Variant Present in the following documents:

• CTI2-9-e1225-s001.pdf
• CTI2-9-e1225.pdf

View BVdb publication page