About: Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits

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About: Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 1995 (uk) im Juni 1995 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57252316-1279A8F3-41B6-4F05-BB8D-F492BD39DF05
publication date	1995-06-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57252316-6C2C044C-D93F-4C11-AFFC-2719C008FAD0
language of work or name	English
author name string	wds:Q57252316-06E72CDE-8D8A-4087-9D8C-BFB63A14B7A7 wds:Q57252316-1B566B7C-A928-4A84-A09F-5E5B9DDF1E8F wds:Q57252316-25D96AAE-F77A-4999-BD0B-36B60C357722 wds:Q57252316-2D565807-2A7F-461F-BE7A-62A8B8E285DC wds:Q57252316-2ED90FD0-0457-409C-891D-C88C05E63874 wds:Q57252316-36891B21-CD0B-4B31-B89B-4709E381884D wds:Q57252316-4E356B21-0878-4721-85C1-677304BCBE01 wds:Q57252316-72BDF430-4FC1-4F2B-9DC4-A3384E628ED9 wds:Q57252316-7842E0D5-E374-4D7F-8242-E02D4D324972 wds:Q57252316-900D7031-D1B9-47E4-8A03-04F8E7162954 wds:Q57252316-B77E15CB-7DBC-4432-862C-7AEC13A5C55D wds:Q57252316-C7C82836-7E68-49F7-8DB6-0BEE7F55C4EF wds:Q57252316-D566AD13-A018-4DB6-89D4-9295E5B47B01 wds:Q57252316-E00DB7F5-572C-4256-BFA6-6835C06BF3EA wds:Q57252316-E81878F1-BFB0-45D5-89A3-E547D33B5E6D wds:Q57252316-EDF75E82-398C-448A-B0BF-53FE5FF54E63 wds:Q57252316-FD9B4764-0472-4D1B-9549-07D96B802544
author name string	D. F. Callen H. M. Mitchison M. H. Breuning N. de Vos R. M. Gardiner S. E. Mole J. L. Haines H. A. Phillips T. J. Lerner E. Andermann E. Gormally P. E. M. Taschner A. D. Thompson Y. M. Hart A. M. O'Rawe K. D'Arigo K. Schlumpf
rdfs:label	Refined localization of the Batten disease gene (nl) Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits (en)
skos:prefLabel	Refined localization of the Batten disease gene (nl) Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits (en)
name	Refined localization of the Batten disease gene (nl) Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits (en)
title	wds:Q57252316-50655C2F-C5E8-49F3-9FDB-3D7255A604AD
title	Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits (en)
page(s)	wds:Q57252316-E817539B-CB2E-441D-A9DD-70DE94CA7BE4
page(s)	312-315
instance of	wds:Q57252316-B7D99633-A19D-4CD0-8576-9BD4731FF102
instance of	scholarly article
main subject	wds:Q57252316-A25F6DFB-142A-4EB7-A136-51246DD8F8EC wds:Q57252316-D1EC4450-828F-4B92-A3B8-BFEA0DA01683
main subject	disequilibrium linkage disequilibrium
PubMed ID	wds:Q57252316-73F80EDC-EA6C-4638-9F5C-D165FEA7A3D2
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7668353
PubMed ID	7668353
published in	wds:Q57252316-26EC6723-AF18-4AE7-AAF6-40EF08F54741
published in	American Journal of Medical Genetics Part A
issue	wds:Q57252316-B2719C35-2419-47DA-966A-EC35BFDCA8D1
volume	wds:Q57252316-E9B3B9F1-C145-4208-B97A-C4708CD87EC3
issue	2
volume	57
DOI	wds:Q57252316-1D10BDFF-94BE-4C9F-AEA1-0C7FA02FACCD
DOI	http://dx.doi.org/10.1002/AJMG.1320570241
DOI	10.1002/AJMG.1320570241
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57252316
is cites work of	Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses Mitochondrial ATP synthase subunit c stored in hereditary ceroid-lipofuscinosis contains trimethyl-lysine Late-infantile ceroid-lipofuscinosis: lysine methylation of mitochondrial ATP synthase subunit c from lysosomal storage bodies. Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues Genetics of epilepsy: current status and perspectives. High-throughput analysis of informative CYP2D6 compound haplotypes. The CLN3 gene and protein: What we know
is cites work of	wds:Q40958510-AAB2C832-E1E2-4C80-9320-F0CEC28D8F46 wds:Q42441407-513841B5-3284-49B1-AF5C-C4BC76AB7FB4 wds:Q34804508-81336874-3B5F-44EF-B2BE-206891284509 wds:Q42822043-355A24D6-B7C9-45A6-ABA3-FB9CED9E74D0 wds:Q47405014-7398D4AE-53CB-4F0D-88DD-8906F68A1E4E wds:Q37944570-F74AEDC6-A9AD-4C46-A8F9-50E920B9EB14 wds:Q48659084-CCA9DE63-A785-45DF-B2F7-CE9569F868A7 wds:Q90377163-8846B9EC-FDAA-41D7-B4DE-A46A7AF226D0

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