FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1586519347> ?p ?o ?g. }

• W1586519347 endingPage "66" @default.
• W1586519347 startingPage "152" @default.
• W1586519347 abstract "Previous epidemiological and biochemical studies have generated conflicting estimates of the sex ratio of mutation. Direct genomic sequencing in combination with haplotype analysis extends previous analyses by allowing the precise mutation to be determined in a given family. From analysis of the factor IX gene of 260 consecutive families with hemophilia B, we report the germ-line origin of mutation in 25 families. When combined with 14 origins of mutation reported by others and with 4 origins previously reported by us, a total of 25 occur in the female germ line, and 18 occur in the male germ line. The excess of germ-line origins in females does not imply an overall excess mutation rate per base pair in the female germ line. Bayesian analysis of the data indicates that the sex ratio varies with the type of mutation. The aggregate of single-base substitutions shows a male predominance of germ-line mutations (P < .002). The maximum-likelihood estimate of the male predominance is 3.5-fold. Of the single-base substitutions, transitions at the dinucleotide CpG show the largest male predominance (11-fold). In contrast to single-base substitutions, deletions display a sex ratio of unity. Analysis of the parental age at transmission of a new mutation suggests that germ-line mutations are associated with a small increase in parental age in females but little, if any, increase in males. Although direct genomic sequencing offers a general method for defining the origin of mutation in specific families, accurate estimates of the sex ratios of different mutational classes require large sample sizes and careful correction for multiple biases of ascertainment. The biases in the present data result in an underestimate of the enhancement of mutation in males." @default.
• W1586519347 created "2016-06-24" @default.
• W1586519347 creator A5011038911 @default.
• W1586519347 creator A5019229900 @default.
• W1586519347 creator A5059362860 @default.
• W1586519347 creator A5060177734 @default.
• W1586519347 creator A5063106224 @default.
• W1586519347 creator A5068401628 @default.
• W1586519347 creator A5089747788 @default.
• W1586519347 date "1993-01-01" @default.
• W1586519347 modified "2023-09-23" @default.
• W1586519347 title "Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation." @default.
• W1586519347 cites W103175032 @default.
• W1586519347 cites W119831078 @default.
• W1586519347 cites W14368480 @default.
• W1586519347 cites W1489089338 @default.
• W1586519347 cites W1533512574 @default.
• W1586519347 cites W1570940727 @default.
• W1586519347 cites W1597737033 @default.
• W1586519347 cites W1687946422 @default.
• W1586519347 cites W178551409 @default.
• W1586519347 cites W188447547 @default.
• W1586519347 cites W1907925067 @default.
• W1586519347 cites W1965743889 @default.
• W1586519347 cites W1970218284 @default.
• W1586519347 cites W1971719088 @default.
• W1586519347 cites W1990223292 @default.
• W1586519347 cites W1990435025 @default.
• W1586519347 cites W1993218835 @default.
• W1586519347 cites W2002235599 @default.
• W1586519347 cites W2005802728 @default.
• W1586519347 cites W2008174156 @default.
• W1586519347 cites W2010056406 @default.
• W1586519347 cites W2015513792 @default.
• W1586519347 cites W2023326581 @default.
• W1586519347 cites W2023651730 @default.
• W1586519347 cites W2027436201 @default.
• W1586519347 cites W2028148688 @default.
• W1586519347 cites W2037424123 @default.
• W1586519347 cites W2039283791 @default.
• W1586519347 cites W2045971584 @default.
• W1586519347 cites W2048525433 @default.
• W1586519347 cites W2053363930 @default.
• W1586519347 cites W2055254549 @default.
• W1586519347 cites W2065739027 @default.
• W1586519347 cites W2070807615 @default.
• W1586519347 cites W2073229224 @default.
• W1586519347 cites W2074747188 @default.
• W1586519347 cites W2080437426 @default.
• W1586519347 cites W2081725138 @default.
• W1586519347 cites W2086829507 @default.
• W1586519347 cites W2098680785 @default.
• W1586519347 cites W2161888675 @default.
• W1586519347 cites W2167021585 @default.
• W1586519347 cites W227090362 @default.
• W1586519347 cites W2295080980 @default.
• W1586519347 cites W2414954169 @default.
• W1586519347 cites W2418505549 @default.
• W1586519347 cites W2886818989 @default.
• W1586519347 cites W315737334 @default.
• W1586519347 cites W31786814 @default.
• W1586519347 cites W346294562 @default.
• W1586519347 cites W4231794490 @default.
• W1586519347 cites W4246266059 @default.
• W1586519347 cites W76875360 @default.
• W1586519347 cites W88189529 @default.
• W1586519347 cites W2400331641 @default.
• W1586519347 cites W74567286 @default.
• W1586519347 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1682121" @default.
• W1586519347 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8434583" @default.
• W1586519347 hasPublicationYear "1993" @default.
• W1586519347 type Work @default.
• W1586519347 sameAs 1586519347 @default.
• W1586519347 citedByCount "28" @default.
• W1586519347 countsByYear W15865193472021 @default.
• W1586519347 crossrefType "journal-article" @default.
• W1586519347 hasAuthorship W1586519347A5011038911 @default.
• W1586519347 hasAuthorship W1586519347A5019229900 @default.
• W1586519347 hasAuthorship W1586519347A5059362860 @default.
• W1586519347 hasAuthorship W1586519347A5060177734 @default.
• W1586519347 hasAuthorship W1586519347A5063106224 @default.
• W1586519347 hasAuthorship W1586519347A5068401628 @default.
• W1586519347 hasAuthorship W1586519347A5089747788 @default.
• W1586519347 hasConcept C104317684 @default.
• W1586519347 hasConcept C180754005 @default.
• W1586519347 hasConcept C197754878 @default.
• W1586519347 hasConcept C48720390 @default.
• W1586519347 hasConcept C501734568 @default.
• W1586519347 hasConcept C54355233 @default.
• W1586519347 hasConcept C86803240 @default.
• W1586519347 hasConcept C98638677 @default.
• W1586519347 hasConceptScore W1586519347C104317684 @default.
• W1586519347 hasConceptScore W1586519347C180754005 @default.
• W1586519347 hasConceptScore W1586519347C197754878 @default.
• W1586519347 hasConceptScore W1586519347C48720390 @default.
• W1586519347 hasConceptScore W1586519347C501734568 @default.
• W1586519347 hasConceptScore W1586519347C54355233 @default.
• W1586519347 hasConceptScore W1586519347C86803240 @default.

• next