Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.

Autor: Beesley, C. E., Burke, D., Jackson, M., Vellodi, A., Winchester, B. G., Young, E. P.

Publikováno v: Journal of Medical Genetics; Mar2003, Vol. 40 Issue 3, p192-194, 3p, 2 Charts

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

Autor: Beesley CE; Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. C.Beesley@ich.ucl.ac.uk, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG

Publikováno v: Human genetics [Hum Genet] 2001 Nov; Vol. 109 (5), pp. 503-11. Date of Electronic Publication: 2001 Oct 19.

The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.

Autor: Beesley CE; Department of Cardiothoracic Surgery, Imperial College School of Medicine at the National Heart & Lung Institute, Heart Science Centre, Harefield Hospital, Middlesex, Ub9 GJH, United Kingdom. C.Beesley@ich.ucl.ac.uk, Child AH, Yacoub MH

Publikováno v: Human mutation [Hum Mutat] 1998; Vol. 11 (5), pp. 413.