ArticleAmerican journal of human genetics1988
Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.
Article in American journal of human genetics, 1988. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 22 citations in OpenAlex.
- Alpha-L-Fucosidase Has Diagnostic Value in Prostate Cancer With "Gray-Zone PSA" and Inhibits Cancer ProgressionFrontiers in oncology · 2021Article
- Genetically polymorphic alpha-L-fucosidase (FUCA1) isozymes detected in blood plasma.Human genetics · 1994Article
- A 5' splice site mutation in fucosidosis.Journal of medical genetics · 1993Article
- BclI RFLP in fucosidase pseudogene (FUCA1P).Nucleic acids research · 1990Article
- Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.Biochemical genetics · 1989Article
- Heterogeneity of mRNA expression in Italian fucosidosis patients.Human genetics · 1989Article
- Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame.Journal of molecular neuroscience : MN · 1989Article
- Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.American journal of human genetics · 1988Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Human alpha-L-fucosidase is a lysosomal enzyme responsible for hydrolysis of alpha-L-fucoside linkages in fucoglycoconjugates. A single gene, FUCA 1, located on chromosome 1p34.1-1p36.1 encodes for alpha-L-fucosidase activity. To gain insight into the nature of the molecular defects leading to fucosidosis, we have characterized the genomic structure of FUCA 1. Restriction-endonuclease analysis suggests that at least seven exons dispersed over 22 kb are present in genomic FUCA 1. Two restriction-fragment-length polymorphisms (RFLPs) have been identified in the Caucasian population. The PvuII and BglI RFLPs each have two codominant alleles in Hardy-Weinberg equilibrium. Allele frequencies for the PvuII RFLP are .70/.30, and those for the BglI RFLP .63/.37. Both RFLPs are in strong linkage disequilibrium with each other, with a correlation coefficient of .94. The polymorphism information content (PIC) of the combined DNA markers is .38, high enough to be useful in the prenatal diagnosis of fucosidosis. The combined lod score for linkage between the fucosidosis mutation and FUCA 1 markers in two families was significant at a recombination fraction of 0. This suggests that the fucosidosis mutation resides in FUCA 1.
Indexed as
Identifiers
2903667PMC1715555W331614929What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.