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Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 211 - 219
Whole exome sequencing was used to investigate the genetic cause of mitochondrial disease in two siblings with a syndrome of congenital lamellar cataracts... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | TUMOR-SUPPRESSOR GENE | BARTH-SYNDROME | RISK | PTPRJ | IDENTIFICATION | FAMILY | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CRYSTALLIN | KIDNEY | CRYAA | Kidney Diseases, Cystic - diagnosis | Endopeptidase Clp - chemistry | Humans | Nephrocalcinosis - enzymology | Male | Structure-Activity Relationship | Metabolism, Inborn Errors - enzymology | Exome | DNA Mutational Analysis | Kidney Diseases, Cystic - genetics | Female | Cataract - enzymology | Kidney Diseases, Cystic - enzymology | Siblings | Endopeptidase Clp - deficiency | Mitochondrial Diseases - genetics | Genetic Predisposition to Disease | Cataract - diagnosis | Risk Factors | Cells, Cultured | Models, Molecular | Endopeptidase Clp - genetics | Heredity | Metabolism, Inborn Errors - genetics | Protein Aggregation, Pathological | Mitochondrial Diseases - enzymology | Metabolism, Inborn Errors - diagnosis | Phenotype | Nephrocalcinosis - genetics | Mitochondrial Membranes - pathology | Pedigree | Cataract - genetics | Protein Conformation | Mutation | Nephrocalcinosis - diagnosis | Mitochondrial Diseases - diagnosis | Proteins | Membrane lipids | Cataract | Genetic disorders | Cysts | Analysis | Children's hospitals | Genetic aspects
Journal Article
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