PubCasesCollection  

Documents (1,075,899) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 8106452 Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta b 2.61 KB 2015-11-27 29 0
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PubMed 8376405 Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor bin 1.57 KB 2015-11-27 28 0
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PubMed 11278168 Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis d 1.28 KB 2015-11-21 28 0
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PubMed 12746442 Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. This study 1.34 KB 2015-11-22 28 0
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PubMed 2511192 Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta min 2.24 KB 2015-11-27 28 0
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PubMed 2303461 A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency. Cong 1.32 KB 2015-11-27 28 0
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PubMed 8702490 Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 2.09 KB 2015-11-27 28 0
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PubMed 2116413 Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollag 2.32 KB 2015-11-25 28 0
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PubMed 9774399 Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of th 1.49 KB 2015-11-27 28 0
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PubMed 7076659 beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box. We recently described a " 1.04 KB 2015-11-27 28 0
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