Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

American Journal of Human Genetics

Volumn 79, Issue 5, 2006, Pages 807-819

  Hřebíček, Martin ^a   Mrázová, Lenka ^a   Seyrantepe, Volkan ^b,d   Durand, Stéphanie ^d   Roslin, Nicole M ^f   Nosková, Lenka ^a   Hartmannová, Hana ^a   Ivánek, Robert ^a,b,c   Čížková, Alena ^a,b   Poupétová, Helena ^a   Sikora, Jakub ^a,b   Uřinovská, Jana ^a   Stránecký, Viktor ^a,b   Zeman, Jiří ^a,b   Lepage, Pierre ^g   Roquis, David ^g   Verner, Andrei ^g   Ausseil, Jérôme ^d   Beesley, Clare E ^h   Maire, Irène ⁱ   Poorthuis, Ben J H M ^j   Van De Kamp, Jiddeke ^k   Van Diggelen, Otto P ^l   Wevers, Ron A ^m   Hudson, Thomas J ^f,g   Fujiwara, T Mary ^f,g   Majewski, Jacek ^g   Morgan, Kenneth ^f,g   Kmoch, Stanislav ^a,b   Pshezhetsky, Alexey V ^d,e,g   more..

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c INSTITUTE OF MOLECULAR GENETICS   (Czech Republic)

^d UNIVERSITY OF MONTREAL   (Canada)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

^f RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^g MCGILL UNIVERSITY   (Canada)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ HÔPITAL DEBROUSSE   (France)

^j ACADEMIC MEDICAL CENTER   (Netherlands)

^k VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^l ERASMUS MEDICAL CENTER   (Netherlands)

^m RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A; ACYLTRANSFERASE; COMPLEMENTARY DNA; HEPARAN SULFATE; LYSOSOME ENZYME; MEMBRANE PROTEIN; TMEM76 PROTEIN; UNCLASSIFIED DRUG; HGSNAT PROTEIN, HUMAN; HYBRID PROTEIN;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CELL STRAIN COS7; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; FIBROBLAST CULTURE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MOLECULAR CLONING; MOUSE; MUCOPOLYSACCHARIDOSIS; NONHUMAN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SANFILIPPO SYNDROME; TMEM76 GENE; ANIMAL; CELL LINE; CHEMISTRY; CHROMOSOME 8; CHROMOSOME MAP; ENZYMOLOGY; EXON; FEMALE; GENETIC TRANSFECTION; GENETICS; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY;

ACETYLTRANSFERASES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL LINE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FEMALE; GENE EXPRESSION; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS III; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RECOMBINANT FUSION PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION;

EID: 33751117228     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/508294     Document Type: Article

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