Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin-Reference-Cited by-同舟云学术

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

Published:2012-01 Issue:1 Volume:90 Page:61-68
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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