Search

Your search keyword '"Kastner, D.L."' showing total 2 results
Start Over Author "Kastner, D.L." Publication Type Magazines
2 results on '"Kastner, D.L."'

1. Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

Author

Ryan, J.G., Masters, S.L., Booty, M.G., Habal, N., Alexander, J.D., Barham, B.K., Remmers, E.F., Barron, K.S., Kastner, D.L., and Aksentijevich, I.

Subjects
Familial Mediterranean fever -- Genetic aspects, Familial Mediterranean fever -- Development and progression, Familial Mediterranean fever -- Risk factors, Familial Mediterranean fever -- Research, Zinc finger proteins -- Genetic aspects, Zinc finger proteins -- Physiological aspects, Zinc finger proteins -- Research, Genetic variation -- Research, Health
Published
2010

2. A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts. (Letters)

Author

Shinar, Y., Ben-Zeev, B., Brand, N., Lahat, H., Gross-Zur, V., MacGregor, D., Bahan, T., Kastner, D.L., and Pras, E.

Subjects
Genetic aspects, Demographic aspects, Health aspects, Inbreeding -- Health aspects -- Genetic aspects, Encephalopathy -- Genetic aspects, Macrocephaly -- Genetic aspects, Genetic disorders -- Demographic aspects -- Genetic aspects
Abstract

Vacuolating megalencephalic leucoencephalopathy with subcortical cysts (VL) is a newly described, inherited leucodystrophy (MIM 604004). Clinically, the disease is characterised by accelerated head growth beginning in the first year of [...]

Published
2002

Catalog

Books, media, physical & digital resources
See catalog results