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Human Mutation|July 5, 2016
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human DeafnessAtteeq U Rehman, Jonathan E Bird, Rabia Faridi, et al.
Human Mutation|July 5, 2016
Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel GatingXin-Ming Shen, Tatsuya Okuno, Margherita Milone, et al.
Human Mutation|December 26, 2001
Database for the mutations of the Finnish disease heritageKati Sipilä, Pertti Aula
Human Mutation|December 26, 2001
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al.
Human Mutation|December 26, 2001
Mutation rate of MAP2K4/MKK4 in breast carcinomaGloria H Su, Jason J Song, Elizabeth A Repasky, et al.
Human Mutation|December 26, 2001
Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APCSima Davidson, Lucy Leshanski, Gad Rennert, et al.
Human Mutation|December 26, 2001
Seven novel and four recurrent point mutations in the factor VIII (F8C) geneNadja Bogdanova, Beate Lemcke, Arseni Markoff, et al.
Human Mutation|January 17, 2002
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutationsNaoki Yamaguchi, Keiko Kobayashi, Tomotsugu Yasuda, et al.
Human Mutation|April 24, 2001
Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implicationsJ Alonso, P García-Miguel, J Abelairas, et al.
Human Mutation|April 24, 2001
Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern GreeceG Miltiadous, M Elisaf, H Bairaktari, et al.
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