Literature DB >> 10364683

A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.

M W Kilpatrick1, P Lembessis, E Rose, P Tsipouras.   

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Year:  1999        PMID： 10364683     DOI： 10.1159/000022867

Source DB:  PubMed          Journal:  Hum Hered        ISSN： 0001-5652            Impact factor:   0.444


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  1 in total

1.  Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.

Authors:  Jie Li; Xiaoyun Jia; Shiqiang Li; Shaohua Fang; Xiangming Guo
Journal:  Mol Vis       Date:  2014-07-18       Impact factor: 2.367
  1 in total

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