136 related articles for article (PubMed ID: 8690922)
21. Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.
Würzner R; Hobart MJ; Fernie BA; Mewar D; Potter PC; Orren A; Lachmann PJ
J Clin Invest; 1995 Apr; 95(4):1877-83. PubMed ID: 7535801
[TBL] [Abstract][Full Text] [Related]
22. Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.
Alvarez V; Coto E; Setién F; Spath PJ; López-Larrea C
Am J Med Genet; 1995 Feb; 55(4):408-13. PubMed ID: 7762578
[TBL] [Abstract][Full Text] [Related]
23. Genetic polymorphism of the sixth component of complement (C6) in dogs.
Shibata T; Abe T; Tanabe Y
Anim Genet; 1995 Apr; 26(2):105-6. PubMed ID: 7733490
[TBL] [Abstract][Full Text] [Related]
24. Molecular basis for complement component 6 (C6) deficiency in rats and mice.
Bhole D; Stahl GL
Immunobiology; 2004; 209(7):559-68. PubMed ID: 15568620
[TBL] [Abstract][Full Text] [Related]
25. A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency.
Horiuchi T; Ferrer JM; Serra P; Matamoros N; López-Trascasa M; Hashimura C; Niho Y
J Hum Genet; 1999; 44(3):215-8. PubMed ID: 10319591
[TBL] [Abstract][Full Text] [Related]
26. Association of a 12.5-kilobase allele of the MspI restriction fragment length polymorphism of the C6 gene in patients with total deficiency of the sixth component of complement.
Potter PC; Warburton C; Würzner R; Orren A; Di Scipio R
Exp Clin Immunogenet; 1993; 10(1):38-44. PubMed ID: 7691111
[TBL] [Abstract][Full Text] [Related]
27. Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection.
Soejima M; Tachida H; Tsuneoka M; Takenaka O; Kimura H; Koda Y
Ann Hum Genet; 2005 May; 69(Pt 3):239-52. PubMed ID: 15845028
[TBL] [Abstract][Full Text] [Related]
28. Molecular diagnosis of hypophosphatasia with severe periodontitis.
Watanabe H; Goseki-Sone M; Iimura T; Oida S; Orimo H; Ishikawa I
J Periodontol; 1999 Jun; 70(6):688-91. PubMed ID: 10397525
[TBL] [Abstract][Full Text] [Related]
29. A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
Watanabe H; Hashimoto-Uoshima M; Goseki-Sone M; Orimo H; Ishikawa I
Oral Dis; 2001 Nov; 7(6):331-5. PubMed ID: 11834095
[TBL] [Abstract][Full Text] [Related]
30. Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency.
Kira R; Ihara K; Takada H; Gondo K; Hara T
Hum Genet; 1998 Jun; 102(6):605-10. PubMed ID: 9703418
[TBL] [Abstract][Full Text] [Related]
31. Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.
Johnson CA; Densen P; Hurford RK; Colten HR; Wetsel RA
J Biol Chem; 1992 May; 267(13):9347-53. PubMed ID: 1577763
[TBL] [Abstract][Full Text] [Related]
32. C6 haplotypes: associations of a Dde I site polymorphism to complement deficiency genes and the Msp I restriction fragment length polymorphism (RFLP).
Fernie BA; Hobart MJ; Delbridge G; Potter PC; Orren A; Lachmann PJ
Clin Exp Immunol; 1994 Feb; 95(2):351-6. PubMed ID: 7508350
[TBL] [Abstract][Full Text] [Related]
33. A novel type II complement C2 deficiency allele in an African-American family.
Zhu ZB; Atkinson TP; Volanakis JE
J Immunol; 1998 Jul; 161(2):578-84. PubMed ID: 9670930
[TBL] [Abstract][Full Text] [Related]
34. Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.
Barba G; Rittner C; Schneider PM
J Clin Invest; 1993 Apr; 91(4):1681-6. PubMed ID: 8473511
[TBL] [Abstract][Full Text] [Related]
35. Clinical implications of C6 complement component deficiency.
Rauscher CK; Fajt ML; Bryk J; Petrov AA
Allergy Asthma Proc; 2020 Sep; 41(5):386-388. PubMed ID: 32867893
[No Abstract] [Full Text] [Related]
36. Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall.
Shibata A; Sugiura K; Suzuki A; Ichiki T; Akiyama M
J Dermatol Sci; 2015 Dec; 80(3):196-202. PubMed ID: 26475431
[TBL] [Abstract][Full Text] [Related]
37. Mutation of tumor suppressor gene p53 is frequently found in vulvar carcinoma cells.
Hietanen SH; Kurvinen K; Syrjänen K; Grénman S; Carey T; McClatchey K; Syrjänen S
Am J Obstet Gynecol; 1995 Nov; 173(5):1477-82. PubMed ID: 7503188
[TBL] [Abstract][Full Text] [Related]
38. Molecular basis of human complement C1s deficiency.
Endo Y; Kanno K; Takahashi M; Yamaguchi Ki; Kohno Y; Fujita T
J Immunol; 1999 Feb; 162(4):2180-3. PubMed ID: 9973493
[TBL] [Abstract][Full Text] [Related]
39. DNA haplotypes of the complement C6 and C7 genes associated with deficiencies of the seventh component; and a new DNA polymorphism in C7 exon 13.
Fernie BA; Orren A; Schlesinger M; Würzner R; Platonov AE; Cooper RC; Williams YE; Hobart MJ
Ann Hum Genet; 1997 Jul; 61(Pt 4):287-98. PubMed ID: 9365782
[TBL] [Abstract][Full Text] [Related]
40. Combined hereditary deficiency of the sixth component of complement and factor VIII coagulant activity in a Dutch family.
Daha MR; Bertina RM; Thompson J; Kauffmann RH; Nicholson-Weller A; Veltkamp JJ; Briët E
Clin Exp Immunol; 1982 Jun; 48(3):733-8. PubMed ID: 6811172
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]