PubCasesCollection  

Documents (1,075,899) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 25533456 Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that d 1.81 KB 2016-01-18 31 0
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PubMed 1906877 Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting vo 1.38 KB 2015-11-24 30 0
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PubMed 132969 Glycosaminoglycans and proteoglycans of human chondrosarcoma. The glycosaminoglycans and proteoglyca 1.01 KB 2015-03-12 30 0
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PubMed 22453924 Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and 1.53 KB 2015-11-26 30 0
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PubMed 10869358 Sterol 27-hydroxylase acts on 7-ketocholesterol in human atherosclerotic lesions and macrophages in 1.71 KB 2015-11-15 30 0
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PubMed 11301317 Identification of a dominant negative homeodomain mutation in Rieger syndrome. Mutations in the PITX 1.55 KB 2015-11-17 29 0
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PubMed 8702527 An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported 1.68 KB 2015-11-27 29 0
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PubMed 2120217 Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosi 1.38 KB 2015-11-25 29 0
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PubMed 23609450 Immune responsive gene 1 (IRG1) promotes endotoxin tolerance by increasing A20 expression in macroph 1.54 KB 2016-01-13 29 0
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PubMed 10419498 Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer 1.96 KB 2015-11-15 29 0
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