Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease

Nature Genetics

Volumn 33, Issue 3, 2003, Pages 345-347

  Drenth, Joost P H ^a,b   Te Morsche, Rene H M ^a   Smink, Renate ^a   Bonifacino, Juan S ^b   Jansen, Jan B M J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

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

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HEPATOCYSTIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; ENDOPLASMIC RETICULUM; FAMILIAL DISEASE; GENE; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GERM LINE; HUMAN; LIVER POLYCYSTIC DISEASE; MARKER GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PRKCSH GENE; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BASE SEQUENCE; CHROMOSOME MAPPING; DNA; FEMALE; GENETIC MARKERS; GERM-LINE MUTATION; GLUCOSIDASES; HAPLOTYPES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; NETHERLANDS; PEDIGREE; PHOSPHOPROTEINS; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT;

EID: 0037370308     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1104     Document Type: Article

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