FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2029129036> ?p ?o ?g. }

• W2029129036 endingPage "780" @default.
• W2029129036 startingPage "771" @default.
• W2029129036 abstract "In this study, we report on a Cameroonian family from the Ewondo ethnic group, presenting with three oculocutaneous albinism type 2 (OCA2) patients homozygous for the 2.7-kb deletion of the P gene. In one of these patients OCA2 was associated with sickle cell anaemia and in two with the sickle cell trait. We took this opportunity to determine single nucleotide polymorphism (SNP) haplotypes within the P gene in this family in comparison with a group of 53 OCA2 patients homozygous for the same mutation and with a matched unrelated full-coloured control group of 49 subjects, originating from seven different ethnic groups of Southern Cameroon including Ewondo. A combination of five exonic and intronic SNPs in the OCA2 gene was genotyped by sequencing PCR products. We found 3 different haplotypes (TAGCT, TAGTT and TAGCC with frequencies of 0.66, 0.28 and 0.06, respectively) associated with the mutation in the 53 OCA2 patients, while 11 different haplotypes were observed in the control group. These observations suggest that the mutation appeared on the relatively frequent haplotype TAGCT, and that the two other haplotypes are derived from two independent recombination events. These haplotypic data, associated with a value of 1/15,000 for the prevalence of the 2.7-kb mutation, a present effective population size of 10,000,000 for Cameroon and a recombination rate of 0.0031, allowed us to estimate that this mutation originated 4,100-5,645 years ago." @default.
• W2029129036 created "2016-06-24" @default.
• W2029129036 creator A5005614672 @default.
• W2029129036 creator A5033499830 @default.
• W2029129036 creator A5044861596 @default.
• W2029129036 creator A5067200384 @default.
• W2029129036 creator A5071662056 @default.
• W2029129036 creator A5074214434 @default.
• W2029129036 date "2007-09-01" @default.
• W2029129036 modified "2023-10-18" @default.
• W2029129036 title "Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene" @default.
• W2029129036 cites W175051047 @default.
• W2029129036 cites W1885198571 @default.
• W2029129036 cites W1891283710 @default.
• W2029129036 cites W1895294121 @default.
• W2029129036 cites W1962874955 @default.
• W2029129036 cites W1966220941 @default.
• W2029129036 cites W1971202093 @default.
• W2029129036 cites W1984759597 @default.
• W2029129036 cites W1987882116 @default.
• W2029129036 cites W1990162036 @default.
• W2029129036 cites W2005014380 @default.
• W2029129036 cites W2010394985 @default.
• W2029129036 cites W2012793589 @default.
• W2029129036 cites W2019909965 @default.
• W2029129036 cites W2021671161 @default.
• W2029129036 cites W2038536855 @default.
• W2029129036 cites W2041019731 @default.
• W2029129036 cites W2046414350 @default.
• W2029129036 cites W2051595537 @default.
• W2029129036 cites W2053492429 @default.
• W2029129036 cites W2057819010 @default.
• W2029129036 cites W2064306519 @default.
• W2029129036 cites W2076497967 @default.
• W2029129036 cites W2078772015 @default.
• W2029129036 cites W2087065920 @default.
• W2029129036 cites W2088664610 @default.
• W2029129036 cites W2099305458 @default.
• W2029129036 cites W2105040817 @default.
• W2029129036 cites W2113098962 @default.
• W2029129036 cites W2119799171 @default.
• W2029129036 cites W2126075508 @default.
• W2029129036 cites W2144942220 @default.
• W2029129036 cites W2147735754 @default.
• W2029129036 cites W233053159 @default.
• W2029129036 cites W2403409905 @default.
• W2029129036 cites W2436560027 @default.
• W2029129036 cites W2461982621 @default.
• W2029129036 cites W2469545246 @default.
• W2029129036 cites W267386141 @default.
• W2029129036 cites W37289312 @default.
• W2029129036 cites W4237334434 @default.
• W2029129036 cites W4239149238 @default.
• W2029129036 cites W4301479582 @default.
• W2029129036 doi "https://doi.org/10.1007/s10038-007-0181-y" @default.
• W2029129036 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17767372" @default.
• W2029129036 hasPublicationYear "2007" @default.
• W2029129036 type Work @default.
• W2029129036 sameAs 2029129036 @default.
• W2029129036 citedByCount "15" @default.
• W2029129036 countsByYear W20291290362012 @default.
• W2029129036 countsByYear W20291290362013 @default.
• W2029129036 countsByYear W20291290362015 @default.
• W2029129036 countsByYear W20291290362017 @default.
• W2029129036 countsByYear W20291290362018 @default.
• W2029129036 countsByYear W20291290362019 @default.
• W2029129036 countsByYear W20291290362020 @default.
• W2029129036 countsByYear W20291290362021 @default.
• W2029129036 countsByYear W20291290362022 @default.
• W2029129036 crossrefType "journal-article" @default.
• W2029129036 hasAuthorship W2029129036A5005614672 @default.
• W2029129036 hasAuthorship W2029129036A5033499830 @default.
• W2029129036 hasAuthorship W2029129036A5044861596 @default.
• W2029129036 hasAuthorship W2029129036A5067200384 @default.
• W2029129036 hasAuthorship W2029129036A5071662056 @default.
• W2029129036 hasAuthorship W2029129036A5074214434 @default.
• W2029129036 hasBestOaLocation W20291290361 @default.
• W2029129036 hasConcept C104317684 @default.
• W2029129036 hasConcept C135763542 @default.
• W2029129036 hasConcept C153209595 @default.
• W2029129036 hasConcept C197754878 @default.
• W2029129036 hasConcept C2775849878 @default.
• W2029129036 hasConcept C2908647359 @default.
• W2029129036 hasConcept C501734568 @default.
• W2029129036 hasConcept C54355233 @default.
• W2029129036 hasConcept C71924100 @default.
• W2029129036 hasConcept C86803240 @default.
• W2029129036 hasConcept C99454951 @default.
• W2029129036 hasConceptScore W2029129036C104317684 @default.
• W2029129036 hasConceptScore W2029129036C135763542 @default.
• W2029129036 hasConceptScore W2029129036C153209595 @default.
• W2029129036 hasConceptScore W2029129036C197754878 @default.
• W2029129036 hasConceptScore W2029129036C2775849878 @default.
• W2029129036 hasConceptScore W2029129036C2908647359 @default.
• W2029129036 hasConceptScore W2029129036C501734568 @default.
• W2029129036 hasConceptScore W2029129036C54355233 @default.
• W2029129036 hasConceptScore W2029129036C71924100 @default.
• W2029129036 hasConceptScore W2029129036C86803240 @default.

• next