Adelaide Research & Scholarship: Search

Search

Results 1-9 of 9 (Search time: 0.002 seconds).

previous
1
next

Item hits:

Preview	Issue Date	Title	Author(s)
	1998	Identification of a common mutation (R245h) in Sanfilippo A patients from the Netherlands	Weber, B.; Vandekamp, J.; Kleijer, W.; Guo, X.H.; Blanch, L.; van Diggelen, O.; Wevers, R.; Poorthuis, B.; Hopwood, J.
	1998	Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype	Yamada, N.; Fukuda, S.; Tomatsu, S.; Muller, V.; Hopwood, J.; Nelson, J.; Kato, Z.; Yamagishi, A.; Sukegawa, K.; Kondo, M.; Orii, T.
	1998	FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis	Hewett, D.; Handt, O.; Hobson, L.; Mangelsdorf, M.; Eyre, H.; Baker, E.; Sutherland, G.; Schuffenhauer, S.; Mao, J.I.; Richards, R.
	1998	Somatic mutation of immunoglobulin V(H)6 genes in human infants	Ridings, J.; Dinan, L.; Williams, R.; Roberton, D.; Zola, H.
	1998	Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene	Gibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, E.
	1998	Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity	Yogalingam, G.; Hopwood, J.; Crawley, A.; Anson, D.
	1998	Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes	Crawley, A.; Yogalingam, G.; Muller, V.; Hopwood, J.
	1998	Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies	Bunge, S.; Clements, P.; Byers, S.; Kleijer, W.; Brooks, D.; Hopwood, J.
	1998	Molecular genetics of mucopolysaccharidosis type I - mutation analysis among the patients of the former Soviet Union	Voskoboeva, E.; Krasnopolskaya, X.; Mirenburg, T.; Weber, B.; Hopwood, J.