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Quoted phrase not found in phrase index: "Glycosylphosphatidylinositol biosynthesis defect 17"
Page 1
Correlations of genotype and phenotype in hypophosphatasia.
Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E. Zurutuza L, et al. Hum Mol Genet. 1999 Jun;8(6):1039-46. doi: 10.1093/hmg/8.6.1039. Hum Mol Genet. 1999. PMID: 10332035
Hypophosphatasia, a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical expression. ...They also confirm that the extremely high phenotypic heterogeneity observed in patients with hypophosphatasia was due mainly …
Hypophosphatasia, a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical expres …
Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals.
Anand M, Rush JS, Ray S, Doucey MA, Weik J, Ware FE, Hofsteenge J, Waechter CJ, Lehrman MA. Anand M, et al. Mol Biol Cell. 2001 Feb;12(2):487-501. doi: 10.1091/mbc.12.2.487. Mol Biol Cell. 2001. PMID: 11179430 Free PMC article.
The hamster Lec35 gene is shown to encode the previously identified cDNA SL15, which corrects the Lec35 mutant phenotype and predicts a novel endoplasmic reticulum membrane protein. The mutant hamster alleles Lec35.1 and Lec35.2 are characterized, and the human Lec35 gene …
The hamster Lec35 gene is shown to encode the previously identified cDNA SL15, which corrects the Lec35 mutant phenotype and predicts …
Detection of GPI-anchored protein-deficient cells in patients with aplastic anaemia and evidence for clonal expansion during the clinical course.
Kawaguchi K, Wada H, Mori A, Takemoto Y, Kakishita E, Kanamaru A. Kawaguchi K, et al. Br J Haematol. 1999 Apr;105(1):80-4. Br J Haematol. 1999. PMID: 10233366 Free article.
The incidence of patients with aplastic anaemia (AA) who show a deficiency of glycosylphosphatidylinositol (GPI)-anchored proteins on their peripheral blood (PB) or bone marrow (BM) cells is higher than that previously reported. ...The defect characteristic for PNH …
The incidence of patients with aplastic anaemia (AA) who show a deficiency of glycosylphosphatidylinositol (GPI)-anchored proteins on …