Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome-Reference-Cited by-同舟云学术

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

Published:2007-11-28 Issue:2 Volume:16 Page:270-273
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Moheb Lia Abbasi,Tzschach Andreas,Garshasbi Masoud,Kahrizi Kimia,Darvish Hossein,Heshmati Yaser,Kordi Alireza,Najmabadi Hossein,Ropers Hans Hilger,Kuss Andreas Walter

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201967.pdf

Reference12 articles.

1. Glass HC, Boycott KM, Adams C et al: Autosomal recessive cerebellar hypoplasia in the Hutterite population. Dev Med Child Neurol 2005; 47: 691–695.

2. Boycott KM, Flavelle S, Bureau A et al: Homozygous deletion of the very low-density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 2005; 77: 477–483.

3. Najmabadi H, Motazacker MM, Garshasbi M et al: Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet 2006; 121: 43–48.

4. Garshasbi M, Motazacker MM, Kahrizi K et al: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 2006; 118: 708–715.

5. Strickland DK, Kounnas MZ, Argraves WS : LDL receptor-related protein: a multiligand receptor for lipoprotein and proteinase catabolism. FASEB J 1995; 9: 890–898.

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