Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome-Reference-Cited by-同舟云学术

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

Published:2002-04-08 Issue:1 Volume:31 Page:79-83
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Hearn Tom,Renforth Glenn L.,Spalluto Cosma,Hanley Neil A.,Piper Karen,Brickwood Sarah,White Chris,Connolly Vincent,Taylor James F.N.,Russell-Eggitt Isabelle,Bonneau Dominique,Walker Mark,Wilson David I.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng874z.pdf

Reference16 articles.

1. Russell-Eggitt, I.M. et al. Alström syndrome. Report of 22 cases and literature review. Ophthalmology 105, 1274–1280 (1998).

2. Marshall, J.D. et al. Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. Am. J. Med. Genet. 73, 150–161 (1997).

3. Collin, G.B., Marshall, J.D., Cardon, L.R. & Nishina, P.M. Homozygosity mapping at Alström syndrome to chromosome 2p. Hum. Mol. Genet. 6, 213–219 (1997).

4. Macari, F. et al. Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family. Hum. Genet. 103, 658–661 (1998).

5. Collin, G.B. et al. Alström syndrome: further evidence for linkage to human chromosome 2p13. Hum. Genet. 105, 474–479 (1999).

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