Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. [electronic resource]
Producer: 20061016Description: 830 p. digitalISSN:- 1098-1004
- Calcium-Binding Proteins
- Codon, Nonsense
- Cohort Studies
- Cysts -- diagnosis
- DNA Mutational Analysis
- Glucosidases
- Humans
- Intracellular Signaling Peptides and Proteins
- Liver Diseases -- diagnosis
- Membrane Proteins -- genetics
- Molecular Chaperones
- Mutation, Missense
- Pedigree
- Phenotype
- Phosphoproteins -- genetics
- Polymorphism, Genetic
- RNA-Binding Proteins
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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