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Human Mutation|December 17, 2008
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PKRichard van Wijk, Eric G Huizinga, Annet C W van Wesel, et al.Human Mutation|March 10, 2009
Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplexWera Roth, Ursula Reuter, Claudia Wohlenberg, et al.Human Mutation|March 13, 2009
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tailDavid Meili, Jana Kralovicova, Julian Zagalak, et al.Human Mutation|February 27, 2009
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional studyAlessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi-Vici, et al.Human Mutation|March 24, 2009
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataractTianxiao Zhang, Rui Hua, Wei Xiao, et al.Human Mutation|March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethalityDorothea Bornholdt, Frank Oeffner, Arne König, et al.Human Mutation|March 25, 2009
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibshipAnne-Hélène Lebrun, Stephan Storch, Franz Rüschendorf, et al.Human Mutation|May 23, 2009
Prediction of function changes associated with single-point protein mutations using support vector machines (SVMs)Shan Gao, Ning Zhang, Guang You Duan, et al.Human Mutation|May 23, 2009
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like diseaseAbul Kalam Azad, Robert Rauh, François Vermeulen, et al.Human Mutation|May 23, 2009
Molecular profiling of the "plexinome" in melanoma and pancreatic cancerAsha Balakrishnan, Junia Y Penachioni, Simona Lamba, et al.Pageof 575