Work

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

Year: 2012

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2012.01.015

Authors: Peter Huppke, Cornelia Brendel, Vera Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaele Pitelet, Callum Wilson, Ursula Gruber-Sedlmayr, Reinhard Ullmann, Stefan Haas, Orly Elpeleg, Gudrun Nürnberg, Peter Nürnberg, Shzeena Dad, Lisbeth Birk Møller, Stephen G. Kaler, Jutta Gärtner

Language: English

Topic: Trace Elements in Health

Subfield: Nutrition and Dietetics

Field: Nursing

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4234006323

FWCI:

Cites:

Cited by: 4

Related to: 10