Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease

American Journal of Human Genetics

Volumn 72, Issue 3, 2003, Pages 691-703

  Li, Airong ^a   Davila, Sonia ^a   Furu, Laszlo ^a   Qian, Qi ^b   Tian, Xin ^a   Kamath, Patrick S ^b   King, Bernard F ^b   Torres, Vicente E ^b   Somlo, Stefan ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; GLUCOSIDASE; PROTEIN KINASE C; PROTEIN SUBUNIT;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM BINDING; CARBOXY TERMINAL SEQUENCE; CATALYSIS; CHROMOSOME 19P; CLINICAL ARTICLE; COMPARATIVE STUDY; CONSERVATION GENETICS; CONTROLLED STUDY; DENATURATION; DNA FLANKING REGION; EXPERIMENTAL TEST; FAMILIAL DISEASE; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC MARKER; GENETIC STRAIN; GENETIC VARIABILITY; GLYCOSYLATION; HAPLOTYPE; HETERODUPLEX ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LIVER CYST; LIVER POLYCYSTIC DISEASE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; TISSUE;

EID: 0037371324     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/368295     Document Type: Article

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