Lianne C. Blanch

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

Hamish S. Scott, Lianne C. Blanch, Xiao-Hui Guo et al. · Nature Genetics · 1995 · 151 citations

Biology, Mendelian Disorder, Genetic Disorder +11

Molecular Defects in Sanfilippo Syndrome Type A

Lianne C. Blanch, Birgit Weber, X H Guo et al. · Human Molecular Genetics · 1997 · 63 citations · Full text

Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands

Birgit Weber, J. J. P. van de Kamp, Wim J. Kleijer et al. · Journal of Inherited Metabolic Disease · 1998 · 49 citations · Full text

A sensitive mutation screening strategy for Fabry disease: Detection of nine mutations in the α-galactosidase A gene

Lianne C. Blanch, Cathy Meaney, C. Phillip Morris · Human Mutation · 1996 · 45 citations

A nonsense mutation (R220X) in the α-galactosidase A gene detected in a female carrier of Fabry disease

Cathy Meaney, Lianne C. Blanch, C. Phillip Morris · Human Molecular Genetics · 1994 · 28 citations

Genetics, Pathology, Molecular Genetics +19