132 related articles for article (PubMed ID: 8871668)
21. Properdin deficiency: molecular basis and disease association.
Fijen CA; van den Bogaard R; Schipper M; Mannens M; Schlesinger M; Nordin FG; Dankert J; Daha MR; Sjöholm AG; Truedsson L; Kuijper EJ
Mol Immunol; 1999; 36(13-14):863-7. PubMed ID: 10698340
[No Abstract] [Full Text] [Related]
22. Mechanism of complement inactivation by glycoprotein C of herpes simplex virus.
Kostavasili I; Sahu A; Friedman HM; Eisenberg RJ; Cohen GH; Lambris JD
J Immunol; 1997 Feb; 158(4):1763-71. PubMed ID: 9029114
[TBL] [Abstract][Full Text] [Related]
23. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.
Stewart H; Black GC; Donnai D; Bonshek RE; McCarthy J; Morgan S; Dixon MJ; Ridgway AA
Ophthalmology; 1999 May; 106(5):964-70. PubMed ID: 10328397
[TBL] [Abstract][Full Text] [Related]
24. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
Chen CH; Shyu PW; Wu SJ; Sheu SS; Desnick RJ; Hsiao KJ
Hum Mutat; 1998; 11(4):328-30. PubMed ID: 9554750
[TBL] [Abstract][Full Text] [Related]
25. A novel mutation W388X underlying properdin deficiency in a Finnish family.
Helminen M; Seitsonen S; Jarva H; Meri S; Järvelä IE
Scand J Immunol; 2012 Apr; 75(4):445-8. PubMed ID: 22229731
[TBL] [Abstract][Full Text] [Related]
26. An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.
Lin Z; deMello DE; Wallot M; Floros J
Mol Genet Metab; 1998 May; 64(1):25-35. PubMed ID: 9682215
[TBL] [Abstract][Full Text] [Related]
27. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Tsuruta M; Mitsubuchi H; Mardy S; Miura Y; Hayashida Y; Kinugasa A; Ishitsu T; Matsuda I; Indo Y
J Hum Genet; 1998; 43(2):91-100. PubMed ID: 9621512
[TBL] [Abstract][Full Text] [Related]
28. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Odièvre MH; Chretien D; Munnich A; Robinson BH; Dumoulin R; Masmoudi S; Kadhom N; Rötig A; Rustin P; Bonnefont JP
Hum Mutat; 2005 Mar; 25(3):323-4. PubMed ID: 15712224
[TBL] [Abstract][Full Text] [Related]
29. One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.
Mizukami K; Nakabayashi T; Naitoh S; Takeda M; Tarumi T; Mizoguchi I; Ieko M; Koike T
Am J Hematol; 2006 Oct; 81(10):787-97. PubMed ID: 16868938
[TBL] [Abstract][Full Text] [Related]
30. Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant.
Percy MJ; Crowley LJ; Roper D; Vulliamy TJ; Layton DM; Barber MJ
Blood Cells Mol Dis; 2006; 36(1):81-90. PubMed ID: 16310381
[TBL] [Abstract][Full Text] [Related]
31. Fulminant meningococcal septic shock in a boy with combined inherited properdin and protein C deficiency.
Fijen CA; Derkx BH; Kuijper EJ; Mannens M; Poort SR; Peters M; Daha MR; Dankert J
Clin Exp Immunol; 1995 Nov; 102(2):290-6. PubMed ID: 7586681
[TBL] [Abstract][Full Text] [Related]
32. [Partial properdin deficiency revealed by a septicemia caused by Neisseria meningitidis].
Frémeaux-Bacchi V; Le Coustumier A; Blouin J; Kazatchkine MD; Weiss L
Presse Med; 1995 Sep; 24(28):1305-7. PubMed ID: 7501623
[TBL] [Abstract][Full Text] [Related]
33. LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.
Pulkkinen L; Jonkman MF; McGrath JA; Kuijpers A; Paller AS; Uitto J
Lab Invest; 1998 Jul; 78(7):859-67. PubMed ID: 9690563
[TBL] [Abstract][Full Text] [Related]
34. Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
Santhiya ST; Manisastry SM; Rawlley D; Malathi R; Anishetty S; Gopinath PM; Vijayalakshmi P; Namperumalsamy P; Adamski J; Graw J
Invest Ophthalmol Vis Sci; 2004 Oct; 45(10):3599-607. PubMed ID: 15452067
[TBL] [Abstract][Full Text] [Related]
35. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
Lee PL; Gelbart T; West C; Halloran C; Beutler E
Blood Cells Mol Dis; 1998 Jun; 24(2):199-215. PubMed ID: 9642100
[TBL] [Abstract][Full Text] [Related]
36. Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatellite.
Agardi D; Pigg M; Sjöholm AG; Truedsson L; Späth PJ; Kuijper EJ; Tijssen CC; Tranebjaerg L; Gustavson KH; Ulfendahl PJ
Exp Clin Immunogenet; 1995; 12(2):111-4. PubMed ID: 7576715
[TBL] [Abstract][Full Text] [Related]
37. Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.
Fisher SE; Ciccodicola A; Tanaka K; Curci A; Desicato S; D'urso M; Craig IW
Genomics; 1997 Oct; 45(2):340-7. PubMed ID: 9344658
[TBL] [Abstract][Full Text] [Related]
38. [Molecular characterization of two variants of alpha-1-antitrypsin deficiency: PI Mpalermo and PI Plovel].
Jardí R; Rodríguez-Frías F; Casas F; Cotrina M; Vidal R; Miravitlles M; Pascual C
Med Clin (Barc); 1997 Oct; 109(12):463-6. PubMed ID: 9441182
[TBL] [Abstract][Full Text] [Related]
39. Mitochondrial gene variation in type 2 diabetes mellitus: detection of a novel mutation associated with maternally inherited diabetes in a Chinese family.
Ma L; Wang H; Chen J; Jin W; Liu L; Ban B; Shen J; Hua Z; Chai J
Chin Med J (Engl); 2000 Feb; 113(2):111-6. PubMed ID: 11775531
[TBL] [Abstract][Full Text] [Related]
40. Partial properdin deficiency.
Davis CA; Forristal J
J Lab Clin Med; 1980 Oct; 96(4):633-9. PubMed ID: 6903190
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
