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Human Mutation|February 15, 2008
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brainCharles Fouillade, Hugues Chabriat, Florence Riant, et al.
Human Mutation|February 19, 2008
CYBB, an NADPH-oxidase gene: restricted diversity in humans and evidence for differential long-term purifying selection on transmembrane and cytosolic domainsEduardo Tarazona-Santos, Toralf Bernig, Laurie Burdett, et al.
Human Mutation|January 22, 2008
A 12-bp deletion in the 5'-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African AmericansHongyan Wang, Mary D Sammel, Gerard Tromp, et al.
Human Mutation|January 22, 2008
Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3Maryline Fresquet, Gail C Jackson, John Loughlin, et al.
Human Mutation|January 22, 2008
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperoneMasaaki Shimotori, Hiroki Maruyama, Gen Nakamura, et al.
Human Mutation|March 11, 2014
A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencingZirui Dong, Lupin Jiang, Chuanchun Yang, et al.
Human Mutation|March 11, 2014
Gene conversion violates the stepwise mutation model for microsatellites in y-chromosomal palindromic repeatsPatricia Balaresque, Turi E King, Emma J Parkin, et al.
Human Mutation|March 12, 2014
The mechanism by which TATA-box polymorphisms associated with human hereditary diseases influence interactions with the TATA-binding proteinIrina Drachkova, Ludmila Savinkova, Tatyana Arshinova, et al.
Human Mutation|March 13, 2014
A dominant STIM1 mutation causes Stormorken syndromeDoriana Misceo, Asbjørn Holmgren, William E Louch, et al.
Human Mutation|March 25, 2014
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessmentMaria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, et al.
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