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Human Mutation|February 17, 2001
Five novel RPGR mutations in families with X-linked retinitis pigmentosaM Guevara-Fujita, S Fahrner, K Buraczynska, et al.
Human Mutation|August 3, 2000
Mutations in holoprosencephalyD Wallis, M Muenke
Human Mutation|August 3, 2000
Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC)B Moulard, C Buresi, A Malafosse
Human Mutation|August 3, 2000
OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counselingN Monnier, V Satre, E Lerouge, et al.
Human Mutation|August 3, 2000
Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease familiesM Koptides, R Mean, K Demetriou, et al.
Human Mutation|August 3, 2000
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patientsR Santer, J Rischewski, G Block, et al.
Human Mutation|August 3, 2000
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth diseaseT Yoshihara, M Yamamoto, M Doyu, et al.
Human Mutation|August 3, 2000
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutationA Fuchshuber, B Mucha, E R Baumgartner, et al.
Human Mutation|October 3, 2000
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotypeA Kadakol, S S Ghosh, B S Sappal, et al.
Human Mutation|October 3, 2000
Identification of specific BRCA1 and BRCA2 variants by DHPLCE Gross, N Arnold, K Pfeifer, et al.
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