About: Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population

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About: Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population Goto Sponge NotDistinct Permalink

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scientific article published on 13 February 2002

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2002 (ast) наукова стаття, опублікована в лютому 2002 (uk) scientific article published on 13 February 2002 (en) مقالة علمية نشرت في 13 فبراير 2002 (ar)
publication date	wds:Q37216211-D1BADA86-4C48-4548-BE68-E64840D21C0D
publication date	2002-02-13 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37216211-3440153A-5821-4563-BEDE-B79C4C820CC4
language of work or name	English
cites work	wds:Q37216211-04C6FBE1-20E0-4EFB-BCC9-BC404AA047F2 wds:Q37216211-318893AE-95FD-4F99-A73B-106F758BF6FB wds:Q37216211-383F6DB9-652E-4C74-A249-781DFE540D51 wds:Q37216211-413026CF-63D8-4BCA-8FA3-9D7EFA288205 wds:Q37216211-49A77771-1BDD-4DB4-856D-E06149925E89 wds:Q37216211-565A3C6F-01FD-46BB-9A52-3D855EE14FB2 wds:Q37216211-6284F380-084E-4768-AEBC-6B841394BF2B wds:Q37216211-866D8810-4645-4238-AA6A-3454C8EF1732 wds:Q37216211-8ED8F31A-E126-4B49-A087-4A704D944694 wds:Q37216211-9713C001-95E7-4678-AB2F-F73EFDBF556E wds:Q37216211-A98DAE62-8F94-484C-8A9E-B8D8CBB66376 wds:Q37216211-CE60E578-A304-4A72-8C2A-A2A83831CE7A wds:Q37216211-D6606FCA-ECD7-48CB-8812-58FCF87C0B81 wds:Q37216211-DB945C52-CBB7-4999-8B8D-562E73475C21 wds:Q37216211-EA82ECC4-112C-461F-9B8A-A00A6FBB6BEA wds:Q37216211-EC35A955-54AA-4CE7-BE4B-1491ED36F088 wds:Q37216211-F62D24D8-8545-4B31-80E1-7395A0681E2A wds:Q37216211-FE2F9846-43A4-4BD7-8D16-8F5B8D30C951
cites work	Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes Identification of the gene causing mucolipidosis type IV. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population A simplified procedure for developing multiplex PCRs Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog Mucolipidosis type IV: clinical spectrum and natural history. Mucolipidosis type IV: abnormal transport of lipids to lysosomes Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews Human disease: calcium signaling in polycystic kidney disease Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. Ocular abnormalities in mucolipidosis IV.
author name string	wds:Q37216211-2CF76511-1B7A-40EB-AF6D-D14844C02EF1 wds:Q37216211-46018DA0-1AE0-4F53-B283-8934281225AC wds:Q37216211-C31C090D-8972-4769-826B-CF56A855F418
author name string	Lisa Edelmann Jianli Dong Ruth Kornreich
rdfs:label	Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (en) Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (nl) Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (ast)
skos:prefLabel	Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (en) Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (nl) Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (ast)
name	Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (en) Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (nl) Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (ast)
author	wds:Q37216211-C73C011E-E8ED-46CF-9D48-8B4AFE91CCCE
author	Robert J. Desnick
title	wds:Q37216211-A614E50F-0376-4E3B-BB4E-21A8FFA77C91
title	Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (en)
page(s)	wds:Q37216211-791EB26D-3A20-4BF3-9C82-DA3E10C479CF
page(s)	1023-1027
instance of	wds:Q37216211-9E266B11-1BA3-47C6-A50F-FF804C99E276 wds:Q37216211-e1db7cdb-a519-47c5-b06b-d961ad3151e8
instance of	scholarly article case report
main subject	wds:Q37216211-6F476D88-ACD7-4593-95B6-6D54E8D4AEA2
main subject	mucolipidosis type IV
PubMed ID	wds:Q37216211-CFC533DA-32F0-4C36-BF25-7EFB7CD9CA03
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11845410
PubMed ID	11845410
published in	wds:Q37216211-7D80A606-C247-4CA6-8E69-4C1848EC776E
published in	American Journal of Human Genetics
issue	wds:Q37216211-0EA35A4E-9600-4292-98B4-1905375698DB
volume	wds:Q37216211-F6B889AC-BDC1-4FEB-B60C-BFC6074EACDE
issue	4
volume	70
DOI	wds:Q37216211-154DF14A-2F08-4375-8C47-B5A8C28F6DBA
DOI	http://dx.doi.org/10.1086/339519
DOI	10.1086/339519
ResearchGate publication ID	wds:Q37216211-59267A66-4824-487D-8C56-E25F4145B265
ResearchGate publication ID	11516613
PMCID	wds:Q37216211-CB02258C-4E6C-4E83-A0C3-58346C3D0CFD
PMCID	379096

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