About: Preferential deletion of exons in Duchenne and Becker muscular dystrophies

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Preferential deletion of exons in Duchenne and Becker muscular dystrophies Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published in Nature

Attributes	Values
rdf:type	Item
description	artículu científicu (ast) wetenschappelijk artikel (nl) article publié dans la revue scientifique Nature (fr) scientific article published in Nature (en) im Oktober 1987 veröffentlichter wissenschaftlicher Artikel (de) Նեյչրում հրատարակված հոդված (hy) наукова стаття, опублікована в Nature в жовтні 1987 (uk)
publication date	wds:Q59065476-F221F8DE-8581-4F2F-83CF-351A782D3FC8
publication date	1987-10-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q59065476-851847D3-1D82-45BA-9208-72BD10CCDE20
language of work or name	English
exact match	wds:Q59065476-5DBAAC7E-57FF-44A1-BE4C-7EFCFD13F3A0
exact match	https://scigraph.springernature.com/pub.10.1038/329638a0
cites work	wds:Q59065476-07108564-225A-498C-BC82-46182226F79C wds:Q59065476-0D8E1733-7911-4AA4-B7E5-F8FEA52EF16D wds:Q59065476-3AFDC991-1BA2-4114-901F-1DA76387A1D7 wds:Q59065476-5C9594FF-B20A-41A3-ACB1-DE65DCAF2D9B wds:Q59065476-66C012E6-F58F-4932-8B47-C91ECC2924EA wds:Q59065476-8811CF56-9670-4188-A4E8-E233B55B88F4 wds:Q59065476-8EF60329-28A0-48E0-8EC1-C758A1CA626F wds:Q59065476-A183B8A8-0FD2-4ADD-AD24-53F5C9648E68 wds:Q59065476-B61E588E-1C29-4E25-A337-2F76D03FB688 wds:Q59065476-E1929C9A-E9B8-4A4A-9B7A-B251DE9D07B1 wds:Q59065476-F08F98AD-C6A3-49CB-AA5D-25D221FAC1B2 wds:Q59065476-F0B74688-F5DF-42A2-B5A4-66D63A3BD861 wds:Q59065476-FD579B75-6E09-4E61-8981-2E1DE4884E2B
cites work	Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Mapping the disease phenotype Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome. A giant locus for the Duchenne and Becker muscular dystrophy gene Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm
author name string	wds:Q59065476-2808A246-79CD-467C-89E5-7EB4ACA07DA7 wds:Q59065476-293D0A87-E530-4AD5-AA37-049929867BE9 wds:Q59065476-99137EFD-E07E-4F9E-B67E-C29D4E1AEDA4 wds:Q59065476-B2C4F0ED-4B22-4446-B654-923A9BD06571 wds:Q59065476-CFCDEEF6-1865-45FC-AA48-7F545FE7A8A3 wds:Q59065476-E6C91E34-A021-4768-B566-16C70CF42CA9
author name string	Burn J Davies KE Forrest SM Gardner-Medwin D Cross GS Speer A
rdfs:label	Preferential deletion of exons in Duchenne and Becker muscular dystrophies (en) Preferential deletion of exons in Duchenne and Becker muscular dystrophies (nl)
skos:prefLabel	Preferential deletion of exons in Duchenne and Becker muscular dystrophies (en) Preferential deletion of exons in Duchenne and Becker muscular dystrophies (nl)
name	Preferential deletion of exons in Duchenne and Becker muscular dystrophies (en) Preferential deletion of exons in Duchenne and Becker muscular dystrophies (nl)
title	wds:Q59065476-F31B24E7-4B77-4464-B678-B7E28E38C04A
title	Preferential deletion of exons in Duchenne and Becker muscular dystrophies (en)
page(s)	wds:Q59065476-C5E3422F-283C-49B4-B9E2-05AC85BDBEBF
page(s)	638-640
instance of	wds:Q59065476-DFE6772A-2493-4158-86CE-3C792FB0822D
instance of	scholarly article
PubMed ID	wds:Q59065476-48CDCE39-7730-4029-B4E1-3233E6DBE35F
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/2821406
PubMed ID	2821406
published in	wds:Q59065476-AC8EAB15-612B-44E4-9065-711B862E0C13
published in	Nature
issue	wds:Q59065476-C2A0F7AB-E4B3-415A-897D-318DB5C4586C
volume	wds:Q59065476-5309C12B-1C71-43A4-A806-3DB7E335ABD2
issue	6140
volume	329
DOI	wds:Q59065476-57B120EF-A73E-4FC1-AF02-06B2C672FE0F
DOI	http://dx.doi.org/10.1038/329638A0
DOI	10.1038/329638A0
Dimensions Publication ID	wds:Q59065476-F46A4BE6-973A-4A71-A3ED-0C1FE80C6A3F
Dimensions Publication ID	1036706137
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q59065476
is cites work of	Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency Technology insight: therapy for Duchenne muscular dystrophy-an opportunity for personalized medicine? Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes Very mild muscular dystrophy associated with the deletion of 46% of dystrophin Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain? Brain dystrophin, neurogenetics and mental retardation Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications Dystrophin is transcribed in brain from a distant upstream promoter. The structural and functional diversity of dystrophin Lack of cytosolic and transmembrane domains of type XIII collagen results in progressive myopathy Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 172 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software