About: Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24

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About: Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 Goto Sponge NotDistinct Permalink

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scientific article published on 01 July 1998

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 1998 (uk) im Juli 1998 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunetu de 1998 (ast) scientific article published on 01 July 1998 (en)
publication date	wds:Q77439707-434EC56E-59E3-4589-9D6D-44F63430F427
publication date	1998-07-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q77439707-F9D7D3C2-962C-4A36-B347-1B2596929235
exact match	https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200229
author name string	wds:Q77439707-1B19F199-D189-4A35-8F37-13FBEFD77000 wds:Q77439707-22461FB0-069B-42C7-95AD-33E453D53DD6 wds:Q77439707-2DB8F92C-4F36-4A6E-92A1-6EFE875C4E32 wds:Q77439707-3C2EEEB7-F83C-4DFA-81C4-1DFE1B43DAE1 wds:Q77439707-48519F33-2872-4F83-AB99-4D5AC0213BFD wds:Q77439707-B5F02832-5513-43C6-929C-73FE6A1E94BD wds:Q77439707-D76BC270-EACF-4B07-A2D0-2FF88740B80A
author name string	Padberg GW Smits AP Kremer H Hageman G Frijns CJ van Ravenswaaij-Arts CM van der Vleuten AJ
rdfs:label	Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 (en) Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 (nl)
skos:prefLabel	Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 (en) Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 (nl)
name	Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 (en) Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 (nl)
title	wds:Q77439707-65443FD0-56DC-4834-90FB-49A068EE8B63
title	Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 (en)
page(s)	wds:Q77439707-288D9CEA-DA39-4905-B244-F408397CD023
page(s)	376-382
instance of	wds:Q77439707-786D7AE1-741A-44D4-B99E-56413EA8D4DC
instance of	scholarly article
main subject	wds:Q77439707-1CD3BB6D-0217-44FC-A228-B1AD8777F382 wds:Q77439707-3A399C41-6277-4F9A-900E-52E38A523B68
main subject	juvenile spinal muscular atrophy muscular atrophy
PubMed ID	wds:Q77439707-63ECC774-2C9B-4A17-A89B-E294880B34F0
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9781046
PubMed ID	9781046
published in	wds:Q77439707-69C14824-CF69-4B67-91D9-6F038E3DB5CF
published in	European Journal of Human Genetics
issue	wds:Q77439707-2D652518-D369-49D0-9308-AD0EE8A22A8D
volume	wds:Q77439707-0C19FB04-B186-4A58-8F54-4F2D5A28C244
issue	4
volume	6
DOI	wds:Q77439707-22ABAF2E-32B9-4967-A6EA-3A7A9C73B2C4
DOI	http://dx.doi.org/10.1038/SJ.EJHG.5200229
DOI	10.1038/SJ.EJHG.5200229
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q77439707
is cites work of	Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Chapter 13 Amyotrophic lateral sclerosis Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C Unraveling the genetics of distal hereditary motor neuronopathies Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene 93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands). A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24 PFM1 (PRDM4), a new member of the PR-domain family, maps to a tumor suppressor locus on human chromosome 12q23-q24.1 Mouse homologue of the human SART3 gene encoding tumor-rejection antigen Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3
is cites work of	wds:Q30497795-AA285E26-DDD3-4F6C-B775-6A500D150435 wds:Q51688070-8A2B3826-F467-4E61-B884-88F1CC032D7B wds:Q35106604-2DC57D86-EE74-43C0-80AC-AA38AB4C4DDF wds:Q79777643-B0EF3415-8BDB-4982-8404-AD83FEDED6A7 wds:Q34020724-58358C5F-2307-4DBD-893E-5DC0F8C3395A wds:Q24300595-7A418CC7-92CE-453A-934B-9ED9BAAE2774 wds:Q30495788-D285B433-FC7B-4BB2-990C-2327FE69C777 wds:Q24304224-A24449FC-0083-4010-8A06-AE8FF2CB482A wds:Q28141597-C596D69F-B82E-490E-B98B-D336043DA481 wds:Q82029198-806DD640-3EAF-4700-8457-C62EB533FA9F wds:Q24595706-B56C7C23-239C-42AE-BCBB-EB5FF5E4E4B2 wds:Q22010757-3892EA9C-30C4-449C-9D74-D7F4EE4723BD wds:Q34053293-900628B1-DFE6-4671-95EE-E07CE8474684 wds:Q34538342-705961E0-51F1-4528-B2C4-D98D10303AD7

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