A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family-Reference-Cited by-同舟云学术

A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family

Published:2011-07-07 Issue:8 Volume:155 Page:1976-1980
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Garshasbi Masoud,Kahrizi Kimia,Hosseini Masoumeh,Nouri Vahid Leila,Falah Masoumeh,Hemmati Sahel,Hu Hao,Tzschach Andreas,Ropers Hans Hilger,Najmabadi Hossein,Kuss Andreas Walter

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34077/fullpdf

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3. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology;Clark;Hum Genet,2006

4. A map of human genome variation from population-scale sequencing;Durbin;Nature,2010

5. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly;Garshasbi;Hum Genet,2006

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