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Human Mutation|March 26, 2003
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasiaSilvia Saviozzi, Alessandro Saluto, Maria Piane, et al.
Human Mutation|March 26, 2003
Bruton tyrosine kinase gene mutations in ArgentinaSilvia Danielian, Jazmin El-Hakeh, Guillermo Basílico, et al.
Human Mutation|March 26, 2003
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from SpainBerta Campos, Orland Díez, Fabrice Odefrey, et al.
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Mutation|December 19, 2001
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factorY Indo
Human Mutation|December 19, 2001
Mutation detection 2001: Sixth International Symposium on Mutations in the Human Genome, May 3-7, 2001, Bled, SloveniaR G Cotton, D Glavac
Human Mutation|December 19, 2001
Novel germline BRCA1 and BRCA2 mutations in breast and breast/ovarian cancer families from the Czech RepublicE Machackova, J Damborsky, D Valik, et al.
Human Mutation|December 19, 2001
Seven novel and four recurrent point mutations in the factor VIII (F8C) geneN Bogdanova, B Lemcke, A Markoff, et al.
Human Mutation|November 21, 2002
Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2Alexander Liede, Steven A Narod
Human Mutation|November 21, 2002
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosisVasiliki Kalatzis, Lola Cohen-Solal, Béatrice Cordier, et al.
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