Identification of autosomal recessive disease loci using out-bred nuclear families-Reference-Cited by-同舟云学术

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Identification of autosomal recessive disease loci using out-bred nuclear families

Published:2011-11-28 Issue:2 Volume:33 Page:338-342
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Carr Ian M.,Diggle Christine P.,Touqan Nader,Anwar Rashida,Sheridan Eamonn G.,Bonthron David T.,Johnson Colin A.,Ali Manir,Markham Alexander F.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21645/fullpdf

Reference11 articles.

1. Consanguinity and its relevance to clinical genetics;Bittles;Clin Genet,2001

2. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010

3. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families;Carr;Hum Mutat,2006

4. IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease;Carr;Hum Mutat,2009

5. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis;Kwiatkowski;Science,2009

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis;Journal of Medical Genetics;2017-03-06

2. Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data;Human Mutation;2015-07-22

3. Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data;Human Mutation;2013-04-29

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