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Human Mutation|February 5, 2000
18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3. Mutations in brief no. 181. OnlineO Tiebel, S Gehrisch, J Pietzsch, et al.
Human Mutation|February 5, 2000
Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. OnlineD Evans, D Wendt, S Ahle, et al.
Human Mutation|February 5, 2000
Molecular analysis of northwestern Mexican patients with cystic fibrosis: screening of 10 known mutations. Mutations in brief no. 185. OnlineS E Flores-Martínez, M Dean, R K Saiki, et al.
Human Mutation|February 5, 2000
The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. OnlineK Virtaneva, L Paulin, R Krahe, et al.
Human Mutation|February 5, 2000
Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. OnlineA Kon, L Pulkkinen, M Hara, et al.
Human Mutation|February 5, 2000
T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. OnlineC Menzaghi, R Di Paola, A Corrias, et al.
Human Mutation|February 12, 2000
Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. OnlineW S Oetting, J M Gardner, J P Fryer, et al.
Human Mutation|February 12, 2000
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. OnlineS Yilmaz, B Horsthemke, D R Lohmann
Human Mutation|January 29, 2000
Sequence variants of DLC1 in colorectal and ovarian tumoursP J Wilson, E McGlinn, A Marsh, et al.
Human Mutation|January 29, 2000
Glucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseD L Stone, N Tayebi, E Orvisky, et al.
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