Literature DB >> 31012784

A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome.

Premanand Chandran1, Prakash Chermakani2, Prasanna Venkataraman1, Siva Prasanna Thilagar1, Ganesh V Raman1, Periasamy Sundaresan2.   

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Year:  2019        PMID： 31012784     DOI： 10.1080/13816810.2019.1605390

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  2 in total

1.  Idiopathic spontaneous filtering bleb: Is there an autoimmune etiology?

Authors:  Siva Prasanna Thilagar; Prasanna Venkataraman; Premanand Chandran
Journal:  Indian J Ophthalmol       Date:  2020-11       Impact factor: 1.848

2.  Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.

Authors:  Cheng Lei; Ting Guo; Shuizi Ding; Liyan Liao; Hong Peng; Zhiping Tan; Hong Luo
Journal:  Mol Genet Genomic Med       Date:  2020-11-20       Impact factor: 2.183
  2 in total

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