Mutations in SEC63 cause autosomal dominant polycystic liver disease

Nature Genetics

Volumn 36, Issue 6, 2004, Pages 575-577

  Davila, Sonia ^a,i   Furu, Laszlo ^a   Gharavi, Ali G ^a   Tian, Xin ^a   Onoe, Tamehito ^a   Qian, Qi ^b   Li, Airong ^a   Cai, Yiqiang ^a   Kamath, Patrick S ^b   King, Bernard F ^b   Azurmendi, Pablo J ^c   Tahvanainen, Pia ^d   Kääriäinen, Helena ^e   Höckerstedt, Krister ^f   Devuyst, Olivier ^g   Pirson, Yves ^g   Martin, Rodolfo S ^c   Lifton, Richard P ^a   Tahvanainen, Esa ^h   Torres, Vicente E ^b   Somlo, Stefan ^a   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^d NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^e UNIVERSITY OF TURKU   (Finland)

^f HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^g CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^h UNIVERSITY OF HELSINKI   (Finland)

ⁱ GENOME INSTITUTE OF SINGAPORE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; GLUCOSIDASE; GLUCOSIDASE 2BETA; GLYCAN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL STRUCTURE; ENDOPLASMIC RETICULUM; ENZYME SUBUNIT; EPITHELIUM CELL; EXON; GENE; GENE FUNCTION; GENE MUTATION; GENE SEC63; GENETIC CODE; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; INTRACELLULAR TRANSPORT; LIVER POLYCYSTIC DISEASE; MUTATIONAL ANALYSIS; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN TRANSPORT;

CHROMOSOMES, HUMAN, PAIR 6; DNA MUTATIONAL ANALYSIS; ENDOPLASMIC RETICULUM; HUMANS; MEMBRANE PROTEINS; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 2642528473     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1357     Document Type: Article

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