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Human Mutation|July 13, 2006
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiencySaskia H L Mandey, Marit S Schneiders, Janet Koster, et al.Human Mutation|July 13, 2006
Phenotypic consequences of branch point substitutionsJana Královicová, Haixin Lei, Igor VorechovskýHuman Mutation|July 13, 2006
Characterization of CHEK2 mutations in prostate cancerXianglin Wu, Xiangyang Dong, Wanguo Liu, et al.Human Mutation|July 13, 2006
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessmentSonja C Stadler, Roman Polanetz, Esther M Maier, et al.Human Mutation|July 13, 2006
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver diseaseEsmé Waanders, René H M te Morsche, Rob A de Man, et al.Human Mutation|December 28, 2006
Truncation of NHEJ1 in a patient with polymicrogyriaVincent Cantagrel, Anne-Marie Lossi, Steven Lisgo, et al.Human Mutation|June 6, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan Kalay, Yun Li, Abdullah Uzumcu, et al.Human Mutation|June 6, 2006
Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40Samir Kumar-Singh, Jessie Theuns, Bianca Van Broeck, et al.Human Mutation|June 21, 2006
Multiple displacement amplification to create a long-lasting source of DNA for genetic studiesLovisa Lovmar, Ann-Christine SyvänenHuman Mutation|June 21, 2006
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) geneSaori Yamaguchi, Lisa L Brailey, Hiroki Morizono, et al.Pageof 583