Missense mutation

Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia

Thassadite Dirami, Baptiste Rode, M Jollivet, Nathalie Da Silva, Denise Escalier, Natacha Gaitch, Caroline Norez, Pierre Tufféry, Jean‐Philippe Wolf, Frédéric Becq, Pierre F. Ray, Emmanuel Dulioust, Gérard Gâcon, Thierry Bienvenu, Aminata Touré

Citations: 116 • 2013

A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse.

Adrian M. Isaacs, Peter L. Oliver, Emma Jones, Alexander Jeans, Allyson C. Potter, Berit H. Hovik, Patrick M. Nolan, Lucie Vizor, P. H. Glenister, Anna Katharina Simon, Ian C. Gray, Nigel K. Spurr, A. Jackie Hunter, Kay E. Davies

Citations: 72 • 2003

ATM missense mutations are frequent inpatients with breast cancer

Steve S. Sommer, Zefei Jiang, Jinong Feng, Carolyn H. Buzin, Jian Zheng, Jeff Longmate, Mira Jung, Jefferson Moulds, Anatoly Dritschilo

Citations: 55 • 2003

Comprehensive scanning of theATM gene with DOVAM-S

Carolyn H. Buzin, Richard A. Gatti, Vũ Quốc Huy Nguyễn, Cindy Y. Wen, Midori Mitui, Özden Sanal, Jie Sheng Chen, G. Nozari, April Mengos, Xuemin Li, Frank K. Fujimura, Steve S. Sommer

Citations: 53 • 2003

Search for correlations between <i>FBN1</i> genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome

Svend Rand‐Hendriksen, Lena Tjeldhorn, Rigmor Lundby, Svein Ove Semb, Jon Offstad, Kai Andersen, Odd Geiran, Benedicte Paus

Citations: 34 • 2007

Absence of somatic ATM missense mutations in 58 mammary carcinomas

Jinong Feng

Citations: 7 • 2003

Orphan Missense Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator

Fleur Fresquet, Romain Clément, Caroline Norez, Adélaïde Sterlin, Patricia Melín, Frédéric Becq, Alain Kitzis, Vincent Thoreau, Frédéric Bilan

Citations: 3 • 2011