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Human Mutation|January 17, 2002
Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutationsJazmin El-Hakeh, Sergio Rosenzweig, Matias Oleastro, et al.
Human Mutation|September 27, 2002
rSNP_Guide: an integrated database-tools system for studying SNPs and site-directed mutations in transcription factor binding sitesJulia V Ponomarenko, Galina V Orlova, Tatyana I Merkulova, et al.
Human Mutation|September 27, 2002
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?Birgitta Winnepenninckx, Vanessa Errijgers, France Hayez-Delatte, et al.
Human Mutation|September 27, 2002
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7BG Loudianos, M Lovicu, V Dessi, et al.
Human Mutation|September 27, 2002
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13M Maheshwari, J Belmont, S Fernbach, et al.
Human Mutation|September 27, 2002
One-step site-directed mutagenesis of ATM cDNA in large (20kb) plasmid constructsShaun P Scott, Alison Teh, Cheng Peng, et al.
Human Mutation|September 27, 2002
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndromeYuval Yaron, Bruria Ben Zeev, Ruth Shomrat, et al.
Human Mutation|November 21, 2002
BRCA1 and BRCA2 sequence variants in Chinese breast cancer familiesXiangcheng Zhi, Csilla Szabo, Sandrine Chopin, et al.
Human Mutation|November 21, 2002
Determination of beta2-adrenergic receptor (ADRB2) haplotypes by a multiplexed polymerase chain reaction assayMathew D Littlejohn, D Robin Taylor, Allison L Miller, et al.
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