A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site

Kathryn Burdon; Shiwani Sharma; Celia Chen; David Mackey; David Dimasi; Jamie Craig

doi:10.1002/humu.9501

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site

Kathryn Burdon, Shiwani Sharma, Celia Chen, David Mackey, David Dimasi, Jamie Craig

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

Original language	English
Pages (from-to)	742-751
Number of pages	10
Journal	Human Mutation
Volume	28
Issue number	7
DOIs	https://doi.org/10.1002/humu.9501
Publication status	Published - 2007

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10.1002/humu.9501Licence: In Copyright

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title = "A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site",

author = "Kathryn Burdon and Shiwani Sharma and Celia Chen and David Mackey and David Dimasi and Jamie Craig",

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AU - Sharma, Shiwani

AU - Chen, Celia

AU - Mackey, David

AU - Dimasi, David

AU - Craig, Jamie

PY - 2007

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DO - 10.1002/humu.9501

M3 - Article

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JO - Human Mutation

JF - Human Mutation

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