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Human Mutation|November 9, 2004
Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patientsSally Chappell, Tamar Guetta-Baranés, Kathryn Batowski, et al.Human Mutation|November 9, 2004
A novel mutation in KCNA1 causes episodic ataxia without myokymiaHane Lee, Hui Wang, Joanna C Jen, et al.Human Mutation|June 15, 2005
Mutation analysis of the GJB2 (connexin 26) gene in EgyptRikkert L Snoeckx, Dalia M Hassan, Nadia M Kamal, et al.Human Mutation|May 10, 2005
SCN1A mutations and epilepsyJohn C Mulley, Ingrid E Scheffer, Steven Petrou, et al.Human Mutation|May 11, 2005
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 geneKim E Nichols, Monisa D Houseknecht, Lynn Godmilow, et al.Human Mutation|June 7, 2005
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutationsKarim Chikh, Céline Rodriguez, Sébastien Vey, et al.Human Mutation|May 10, 2005
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease groupJason Kennedy, Gail C Jackson, Faye S Barker, et al.Human Mutation|May 10, 2005
Functional analysis of natural mutations in two TWIST protein motifsNoriko Funato, Stephen R F Twigg, Norihisa Higashihori, et al.Human Mutation|August 10, 2005
Twenty-four novel mutations in Wilson disease patients of predominantly European ancestryD W Cox, L Prat, J M Walshe, et al.Human Mutation|September 1, 2005
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coliGitana Aceto, Maria Cristina Curia, Serena Veschi, et al.Pageof 583