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

American Journal of Human Genetics

Volumn 90, Issue 1, 2012, Pages 61-68

  Huppke, Peter ^a   Brendel, Cornelia ^a   Kalscheuer, Vera ^b   Korenke, Georg Christoph ^c   Marquardt, Iris ^c   Freisinger, Peter ^d   Christodoulou, John ^e   Hillebrand, Merle ^a   Pitelet, Gaele ^f   Wilson, Callum ^g   Gruber Sedlmayr, Ursula ^h   Ullmann, Reinhard ^b   Haas, Stefan ^b   Elpeleg, Orly ⁱ   Nürnberg, Gudrun ^j   Nürnberg, Peter ^j   Dad, Shzeena ^k   Møller, Lisbeth Birk ^k   Kaler, Stephen G ^l   Gärtner, Jutta ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c Children's Hospital   (Germany)

^d Klinikum am Steinenberg   (Germany)

^e UNIVERSITY OF SYDNEY   (Australia)

^f UNIVERSITY HOSPITAL OF NICE   (France)

^g STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^h MEDICAL UNIVERSITY OF GRAZ   (Austria)

ⁱ HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^j UNIVERSITY OF COLOGNE   (Germany)

^k JOHN F KENNEDY INSTITUTE   (Denmark)

^l EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

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Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A; ACETYL COENZYME A TRANSPORTER; CERULOPLASMIN; COPPER; GANGLIOSIDE; GLYCOPROTEIN; UNCLASSIFIED DRUG;

ACETYLATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEVELOPMENT; CELL STRAIN HEPG2; CEREBELLUM HYPOPLASIA; CERULOPLASMIN BLOOD LEVEL; CHILD; CHROMOSOME 3Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; COPPER BLOOD LEVEL; COPPER DEFICIENCY; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; FAMILY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GENETIC CODE; GENETIC CONSERVATION; HEARING LOSS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROCESSING; PROTEIN SECRETION; SLC33A1 GENE;

BASE SEQUENCE; CATARACT; CEREBELLUM; CERULOPLASMIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; COPPER; FEMALE; HEARING LOSS; HEP G2 CELLS; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 84855832521     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.11.030     Document Type: Article

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