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Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
by
De Meirleir, Linda
,
Seneca, Sara
,
Damis, Eliane
,
Sepulchre, Brigitte
,
Hoorens, Anne
,
Gerlo, Erik
,
García Silva, M. Teres
,
Hernandez, Elena Martín
,
Lissens, Willy
,
Van Coster, Rudy
Published in
American journal of medical genetics. Part A
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American Journal Of Medical Genetics
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American Journal Of Medical Genetics. Part A
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Atpases Associated With Diverse Cellular Activities
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Biological And Medical Sciences
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Chromosome Fragility
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Codon, Nonsense
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Congenital Lactic Acidosis
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Electron Transport Complex Iii - Deficiency
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Electron Transport Complex Iii - Genetics
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Fatal Outcome
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Female
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Gastroenterology. Liver. Pancreas. Abdomen
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General Aspects. Genetic Counseling
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Genetics & Heredity
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Humans
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Infant, Newborn
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Liver Cholestasis
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Liver. Biliary Tract. Portal Circulation. Exocrine Pancreas
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