Matches in SemOpenAlex for { <https://semopenalex.org/work/W2744537710> ?p ?o ?g. }
Showing items 1 to 65 of
65
with 100 items per page.
- W2744537710 abstract "Several cases of hereditary homozygous C5 deficiency (C5D) have heen discovered , but the molecular genetic defect causing C5 protein deficiency is not known in any C5D kindred. Lack of RFLPs, restricted tissue expression, gene size (80 kb). and gene complexity (41 exons) have precluded many protein and molecular genetic studies of C5 deficiency. We are presently examining the molecular basis of C5 deficiency in a homozygous C5D Black-American female. By ELISA with a sensitivity of 5 ng/ml, no C5 protein was detected in the serum of this C5D individual. To determine the molecular genetic basis of the deficiency, a genomic cosmid library was constructed using DNA from the patient's white blood cells. C5 clones were isolated and the C5D structural gene was mapped using four overlapping cosmid clones. The C5D genomic inserts were purified, self-ligated, randomly sheared by sonication, and fragments of 600bp were cloned into M13mpl8. M13 sub-clones that contained exons were identified by C5 cDNA hybridization and sequenced. Approximately 50% of the C5D structural gene has been characterized by this method thus far. One mutation has been discovered during this analysis that would cause C5 protein deficiency. A nonsense mutation (CAG to TAG) was found encoding the first amino acid of the C5 /J-chain (Glni to Stop). This finding indicates that the molecular genetic defect causing C5 protein deficiency in this patient can be partly explained by a nonsense mutation in one of the C5 alleles. Current PCR studies will determine if this mutation is present in both C5 alleles of this patient as well as in C5 genes of other C5D kindred." @default.
- W2744537710 created "2017-08-17" @default.
- W2744537710 creator A5066767652 @default.
- W2744537710 date "1993-01-01" @default.
- W2744537710 modified "2023-09-23" @default.
- W2744537710 title "HUMAN C5 DEFICIENCY:A NONSENSE MUTATION IN THE FIRST CODON OF THE β-CHAIN" @default.
- W2744537710 hasPublicationYear "1993" @default.
- W2744537710 type Work @default.
- W2744537710 sameAs 2744537710 @default.
- W2744537710 citedByCount "0" @default.
- W2744537710 crossrefType "journal-article" @default.
- W2744537710 hasAuthorship W2744537710A5066767652 @default.
- W2744537710 hasConcept C104317684 @default.
- W2744537710 hasConcept C143065580 @default.
- W2744537710 hasConcept C153911025 @default.
- W2744537710 hasConcept C17757408 @default.
- W2744537710 hasConcept C187882448 @default.
- W2744537710 hasConcept C20580545 @default.
- W2744537710 hasConcept C35101798 @default.
- W2744537710 hasConcept C36823959 @default.
- W2744537710 hasConcept C501734568 @default.
- W2744537710 hasConcept C54355233 @default.
- W2744537710 hasConcept C5527404 @default.
- W2744537710 hasConcept C75563809 @default.
- W2744537710 hasConcept C86803240 @default.
- W2744537710 hasConcept C96777560 @default.
- W2744537710 hasConceptScore W2744537710C104317684 @default.
- W2744537710 hasConceptScore W2744537710C143065580 @default.
- W2744537710 hasConceptScore W2744537710C153911025 @default.
- W2744537710 hasConceptScore W2744537710C17757408 @default.
- W2744537710 hasConceptScore W2744537710C187882448 @default.
- W2744537710 hasConceptScore W2744537710C20580545 @default.
- W2744537710 hasConceptScore W2744537710C35101798 @default.
- W2744537710 hasConceptScore W2744537710C36823959 @default.
- W2744537710 hasConceptScore W2744537710C501734568 @default.
- W2744537710 hasConceptScore W2744537710C54355233 @default.
- W2744537710 hasConceptScore W2744537710C5527404 @default.
- W2744537710 hasConceptScore W2744537710C75563809 @default.
- W2744537710 hasConceptScore W2744537710C86803240 @default.
- W2744537710 hasConceptScore W2744537710C96777560 @default.
- W2744537710 hasOpenAccess W2744537710 @default.
- W2744537710 hasRelatedWork W1480703248 @default.
- W2744537710 hasRelatedWork W1483831603 @default.
- W2744537710 hasRelatedWork W1485889504 @default.
- W2744537710 hasRelatedWork W1757551141 @default.
- W2744537710 hasRelatedWork W1927533898 @default.
- W2744537710 hasRelatedWork W1964833334 @default.
- W2744537710 hasRelatedWork W1981549375 @default.
- W2744537710 hasRelatedWork W1983094833 @default.
- W2744537710 hasRelatedWork W1992736777 @default.
- W2744537710 hasRelatedWork W2023622273 @default.
- W2744537710 hasRelatedWork W2040865333 @default.
- W2744537710 hasRelatedWork W2053644233 @default.
- W2744537710 hasRelatedWork W2083280777 @default.
- W2744537710 hasRelatedWork W2107184117 @default.
- W2744537710 hasRelatedWork W2111514399 @default.
- W2744537710 hasRelatedWork W2354690963 @default.
- W2744537710 hasRelatedWork W2370287644 @default.
- W2744537710 hasRelatedWork W2373534053 @default.
- W2744537710 hasRelatedWork W2409545636 @default.
- W2744537710 hasRelatedWork W2410571693 @default.
- W2744537710 isParatext "false" @default.
- W2744537710 isRetracted "false" @default.
- W2744537710 magId "2744537710" @default.
- W2744537710 workType "article" @default.