Abstract |
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Authors | Marta Kanabus, Rojeen Shahni, José W Saldanha, Elaine Murphy, Vincent Plagnol, William Van't Hoff, Simon Heales, Shamima Rahman |
Journal | Journal of inherited metabolic disease
(J Inherit Metab Dis)
Vol. 38
Issue 2
Pg. 211-9
(Mar 2015)
ISSN: 1573-2665 [Electronic] United States |
PMID | 25595726
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Endopeptidase Clp
- CLPB protein, human
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Topics |
- Cataract
(diagnosis, enzymology, genetics)
- Cells, Cultured
- DNA Mutational Analysis
- Endopeptidase Clp
(chemistry, deficiency, genetics)
- Exome
- Female
- Genetic Predisposition to Disease
- Heredity
- Humans
- Kidney Diseases, Cystic
(diagnosis, enzymology, genetics)
- Male
- Metabolism, Inborn Errors
(diagnosis, enzymology, genetics)
- Mitochondrial Diseases
(diagnosis, enzymology, genetics)
- Mitochondrial Membranes
(pathology)
- Models, Molecular
- Mutation
- Nephrocalcinosis
(diagnosis, enzymology, genetics)
- Pedigree
- Phenotype
- Protein Aggregation, Pathological
- Protein Conformation
- Risk Factors
- Siblings
- Structure-Activity Relationship
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