TY  - GEN
AU  - Waanders,Esmé
AU  - te Morsche,René H M
AU  - de Man,Rob A
AU  - Jansen,Jan B M J
AU  - Drenth,Joost P H
TI  - Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease
SN  - 1098-1004
PY  - 2006///1016
KW  - Calcium-Binding Proteins
KW  - Codon, Nonsense
KW  - Cohort Studies
KW  - Cysts
KW  - diagnosis
KW  - DNA Mutational Analysis
KW  - Glucosidases
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Liver Diseases
KW  - Membrane Proteins
KW  - genetics
KW  - Molecular Chaperones
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Phosphoproteins
KW  - Polymorphism, Genetic
KW  - RNA-Binding Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.9441
ER  -