A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly-Reference-Cited by-同舟云学术

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A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly

Published:2006-08-10 Issue:9 Volume:51 Page:760-764
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Gul Asma,Hassan Muhammad Jawad,Hussain Sabir,Raza Syed Irfan,Chishti Muhammad Salman,Ahmad Wasim

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2006116.pdf

Reference25 articles.

1. Bond J, Woods CG (2006) Cytoskeletal genes regulating brain size. Curr Opin Cell Biol 18:95–101

2. Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG (2002) ASPM is a major determinant of cerebral cortical size. Nat Genet 32:316–320

3. Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RCM, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG (2003) Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet 73:1170–1177

4. Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG (2005) A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 37:353–355

5. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 63:861–869

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