ArticleAmerican journal of human genetics1990
Krabbe disease locus mapped to chromosome 14 by genetic linkage.
Article in American journal of human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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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
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Who cites it
17 citing papers in PubMed, 67 citations in OpenAlex.
- Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Review
- Human iPSC-derived astrocytes generated from donors with globoid cell leukodystrophy display phenotypes associated with disease.PloS one · 2022Article
- Canine Models of Inherited Musculoskeletal and Neurodegenerative Diseases.Frontiers in veterinary science · 2020Review
- Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.Journal of neuroscience research · 2016Review
- Thickening of the cauda equina roots: a common finding in Krabbe disease.European radiology · 2016Article
- Aberrant production of tenascin-C in globoid cell leukodystrophy alters psychosine-induced microglial functions.Journal of neuropathology and experimental neurology · 2014Article
- Krabbe disease: unusual MRI findings.Pediatric radiology · 2006Article
- Current status of human chromosome 14.Journal of medical genetics · 2002Review
- Intracranial and spinal MR imaging findings associated with Krabbe's disease: case report.AJNR. American journal of neuroradiology · 2001Article
- Optic nerve enlargement in Krabbe's disease.AJNR. American journal of neuroradiology · 1999Article
- Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.American journal of human genetics · 1996Article
- Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.Human genetics · 1996Article
- Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis.American journal of human genetics · 1993Article
- Localization of the twitcher (twi) mutation on mouse chromosome 12.Mammalian genome : official journal of the International Mammalian Genome Society · 1993Article
- Mouse chromosome 12.Mammalian genome : official journal of the International Mammalian Genome Society · 1992Review
- Mouse chromosome 12.Mammalian genome : official journal of the International Mammalian Genome Society · 1991Review
- Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Using genetic linkage we have localized the gene coding for galactocerebrosidase (GALC) to human chromosome 14. Patients with Krabbe disease and their family members were assayed for GALC activity in leukocytes or fibroblasts and were classified as affected, carrier, noncarrier, or unknown. Polymorphic DNA markers from chromosome 14 demonstrated a multipoint LOD score of 3.40 with GALC located 13 cM centromere distal to CRI-C70 (D14S24). This finding is consistent with the location of the mouse twitcher mutation (a model of human GALC deficiency) on chromosome 12, which has substantial homology to human chromosome 14. Our data do not support a previous report's localization of GALC to chromosome 17.
Indexed as
Identifiers
1971996PMC1683747W1579615883What 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.