Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin (Q34246902)

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Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin
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    Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin (English)
    Peter Huppke
    Cornelia Brendel
    Georg Christoph Korenke
    Iris Marquardt
    Peter Freisinger
    Merle Hillebrand
    Gaele Pitelet
    Callum Wilson
    Ursula Gruber-Sedlmayr
    Reinhard Ullmann
    Orly Elpeleg
    Shzeena Dad
    Stephen G Kaler
    Jutta Gärtner

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