Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63

Clinical Genetics

Volumn 78, Issue 1, 2010, Pages 47-56

  Waanders, E ^a   Venselaar, H ^b   te Morsche, R H M ^a   de Koning, D B ^a,c   Kamath, P S ^d   Torres, V E ^e   Somlo, S ^f   Drenth, J P H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c JEROEN BOSCH HOSPITAL   (Netherlands)

^d MAYO CLINIC   (United States)

^e Mayo Clinic   (United States)

^f YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Homology modeling; Polycystic liver disease; PRKCSH; SEC63; Structural effects

Indexed keywords

ADULT; ARTICLE; CAPILLARY ELECTROPHORESIS; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC SCREENING; HUMAN; LIVER POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR MODEL; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PRKCSH GENE; PROTEIN FUNCTION; PROTEIN SECONDARY STRUCTURE; PROTEIN TERTIARY STRUCTURE; RNA SPLICING; SEC63 GENE; SEQUENCE HOMOLOGY; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; KIDNEY POLYCYSTIC DISEASE; MUTATION;

GLUCOSIDASE; MEMBRANE PROTEIN; PRKCSH PROTEIN, HUMAN; SEC63 PROTEIN, HUMAN; SIGNAL PEPTIDE;

DNA MUTATIONAL ANALYSIS; GLUCOSIDASES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MODELS, MOLECULAR; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY;

EID: 77954567518     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01353.x     Document Type: Article

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