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Human Mutation|August 31, 2002
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutationsN Venturi, A Rovelli, R Parini, et al.
Human Mutation|August 31, 2002
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patientsMirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, et al.
Human Mutation|August 31, 2002
Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer familiesHio Chung Kang, Il-Jin Kim, Jae-Hyun Park, et al.
Human Mutation|August 31, 2002
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndromeAnnemarie H Van Der Hout, Edwin Verlind, Frits A Beemer, et al.
Human Mutation|July 5, 2001
Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populationsJ K Killian, Y Oka, H S Jang, et al.
Human Mutation|July 5, 2001
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2)D Lin, J A Goldstein, A N Mhatre, et al.
Human Mutation|July 5, 2001
Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTRG Feriotto, A Ferlini, A Ravani, et al.
Human Mutation|July 5, 2001
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiencyT T Liu, Y H Chang, S H Chiang, et al.
Human Mutation|July 20, 2001
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsM G Miano, F Testa, F Filippini, et al.
Human Mutation|July 20, 2001
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)B Gérard, J El Benna, F Alcain, et al.
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