Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin - Concepedia

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Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

DOI Full Paper Access

101

Citations

15

References

2012

Year

Peter Huppke, Cornelia Brendel, Vera M. Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaële Pitelet, Callum Wilson,

The American Journal of Human Genetics

Mendelian DisorderOphthalmologyGenetic DisorderMedicineGeneticsSlc33a1 CausePathologyNeurogeneticsCongenital CataractsMolecular MedicineHearing Loss

References

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