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Human Mutation|June 20, 2003
The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relativesZhen Hu, Jiong Wu, Can-Hui Liu, et al.
Human Mutation|January 1, 1992
Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndromeM A Berg, J Guevara-Aguirre, A L Rosenbloom, et al.
Human Mutation|March 26, 2003
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expressionPaula J Waters
Human Mutation|March 26, 2003
The molecular basis of phenylketonuria in LatviaN Pronina, S Giannattasio, P Lattanzio, et al.
Human Mutation|March 26, 2003
Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patientsA Esra Manguoglu, Güven Lüleci, Tayfun Ozçelik, et al.
Human Mutation|March 26, 2003
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutationsPetra H L Schuilenga-Hut, Pieter v d Vlies, Marcel F Jonkman, et al.
Human Mutation|March 26, 2003
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in SlovakiaZdena Bartosova, Ivana Fridrichova, Maria Bujalkova, et al.
Human Mutation|March 26, 2003
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patientsKatsunori Fujii, Yoichi Kohno, Katsuo Sugita, et al.
Human Mutation|March 26, 2003
Mutation analysis in 16 patients with mtDNA depletionR Carrozzo, B Bornstein, S Lucioli, et al.
Human Mutation|June 20, 2003
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patientsHong-Zhi Gao, Keiko Kobayashi, Ayako Tabata, et al.
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