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

Overview

Authors

  • Authorship

    • HUPPKE P
    • WILSON C
    • GRUBER-SEDLMAYR U
    • ULLMANN R
    • HAAS S
    • ELPELEG O
    • NUERNBERG G
    • NUERNBERG P
    • DAD S
    • MOLLER LB
    • KALER SG
    • BRENDE C
    • GAERTNER J
    • KALSCHEUER V
    • KORENKE GC
    • MARQUARDT I
    • FREISINGER P
    • PROF John Christodoulou
    • HILLEBRAND M
    • PITELET G

Published in

  • American Journal of Human Genetics

Time

Date/time value

  • 2012

Identity

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2011.11.030

Additional Document Info

Parent Title

  • AMERICAN JOURNAL OF HUMAN GENETICS

Volume

  • 90

Issue

  • 1

Publisher

  • University of Chicago Press