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Human Mutation|May 20, 2003
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPHJochen Reiss, Jean L Johnson
Human Mutation|May 20, 2003
Mutation analysis in patients with N-acetylglutamate synthase deficiencyJohannes Häberle, Eva Schmidt, Silke Pauli, et al.
Human Mutation|May 20, 2003
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancyLieve Claes, Berten Ceulemans, Dominique Audenaert, et al.
Human Mutation|June 20, 2003
Genetic diversity of the alpha-1-antitrypsin gene in Africans identified using a novel genotyping assayVanessa M Hayes
Human Mutation|June 20, 2003
The molecular basis of glutamate formiminotransferase deficiencyJohn F Hilton, Karen E Christensen, David Watkins, et al.
Human Mutation|June 20, 2003
Epigenetic detection of human chromosome 14 uniparental disomyS K Murphy, A A Wylie, K J Coveler, et al.
Human Mutation|June 20, 2003
Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR methodWera Hofmann, Heike Görgens, Anika John, et al.
Human Mutation|June 20, 2003
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasiaAlessandra Tessa, Sergio Salvi, Carlo Casali, et al.
Human Mutation|January 1, 1992
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian familyI Trop, F Kaplan, C Brown, et al.
Human Mutation|January 1, 1992
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locusS W John, C R Scriver, R Laframboise, et al.
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