About: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

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About: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome Goto Sponge NotDistinct Permalink

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description	article científic (ca) article scientific (oc) articol științific (ro) artigo científico (gl) artikull shkencor (sq) artikulong pang-agham (tl) artykuł naukowy (pl) bilimsel makale (tr) mokslinis straipsnis (lt) scienca artikolo (eo) teaduslik artikkel (et) tieteellinen artikkeli (fi) tudományos cikk (hu) vitenskapelig artikkel (nb) vitskapeleg artikkel (nn) επιστημονικό άρθρο (el) мақолаи илмӣ (tg) научна статия (bg) научная статья (ru) מאמר מדעי (he) სამეცნიერო სტატია (ka) บทความทางวิทยาศาสตร์ (th) научна статија (mk) bài báo khoa học (vi) naučni članak (sr-el) мақолаи илмӣ (tg-cyrl) научни чланак (sr-ec) scientific article (en) wetenskaplike artikel (af) ശാസ്ത്ര പ്രബന്ധം (ml) سائنسی مضمون (ur) مقالهٔ علمی (fa) 1999 nî lūn-bûn (nan) 1999年の論文 (ja) 1999年論文 (zh-hk) 1999年論文 (zh-tw) 1999年論文 (zh-hant) 1999年論文 (yue) 1999年論文 (zh-mo) 1999年论文 (zh) 1999年论文 (zh-cn) 1999年论文 (zh-sg) 1999年论文 (zh-hans) 1999年论文 (wuu) 1999年论文 (zh-my) 1999년 논문 (ko) ১৯৯৯-এ প্রকাশিত বৈজ্ঞানিক নিবন্ধ (bn) artículo científico publicado en 1999 (es) artículu científicu espublizáu en 1999 (ast) vědecký článek publikovaný v roce 1999 (cs) artigo científico (publicado na 1999) (pt-br) наукова стаття, опублікована в червні 1999 (uk) научни чланак (објављен 1999-06) (sr) مقالة علمية (نشرت في يونيو 1999) (ar) article scientifique (publié 1999-06) (fr) articolo scientifico (pubblicato il 1999-06) (it) artigo científico (publicado na 1999-06) (pt) vedecký článok (publikovaný 1999-06) (sk) vetenskaplig artikel (publicerad på 1999-06) (sv) videnskabelig artikel (udgivet 1999-06) (da) wetenschappelijk artikel (gepubliceerd op 1999-06) (nl) 1999 թուականի Յունիսին հրատարակուած գիտական յօդուած (hyw) 1999 թվականի հունիսին հրատարակված գիտական հոդված (hy) wissenschaftlicher Artikel (veröffentlicht in 1999-06) (de)
publication date	wds:Q22009989-D10CB026-D8D6-4561-80AA-8E3F62449C6F
publication date	1999-06-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q22009989-38E2A40F-3746-4273-89BA-D35DCB0F3285
language of work or name	English
cites work	wds:Q22009989-1D2A7993-411F-4F9E-A828-DC22086FC07C wds:Q22009989-6966D1E9-4B92-42A1-A075-64DA96B288E8 wds:Q22009989-83CF3E33-3180-4091-AD04-1568CA876B8F wds:Q22009989-A57D571E-0336-4151-864F-76415305BBA6 wds:Q22009989-A7AA8794-77C5-462F-BC23-FC530F6694B1 wds:Q22009989-D225BFE5-888F-436D-AA90-8C928DE420C9 wds:Q22009989-E3DEC811-96E5-4B32-A357-D241B469266F
cites work	Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases Hyperimmunoglobulinaemia D and periodic fever: a new syndrome Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency Regulation of the mevalonate pathway
author name string	wds:Q22009989-05D0B94E-7724-4920-8596-97F3B7742230 wds:Q22009989-08E45F56-73C1-47F9-A87A-5DF2EE87AB8C wds:Q22009989-573009AA-5426-4508-B52E-7C9DE552C17C wds:Q22009989-73C5A804-3B35-4006-9CE1-EFC6EF090CBE wds:Q22009989-760F1054-C9D8-4F3F-88FA-999483364094 wds:Q22009989-7DD204D5-3880-43E1-9688-FD72ABFD54FA wds:Q22009989-8C14E4B9-EB45-42F1-A3B6-91841795AB1E wds:Q22009989-8C6C032A-A649-4726-ACAB-66CFC4925E06 wds:Q22009989-9325BD00-945B-4651-8CA1-FA5DB518EA18 wds:Q22009989-A18DC1BC-EB58-4056-9405-681672F9294E wds:Q22009989-AC9B943B-6B6C-40B7-8696-8A926F8A9125 wds:Q22009989-CF0FD01A-52A6-4B78-898E-C148C5B35CB1 wds:Q22009989-E406EF43-55C7-4480-A9AA-967D387DBCEF wds:Q22009989-FF7D10A6-4B59-42D4-BB54-2E1633D7C248
OpenCitations bibliographic resource ID	wds:Q22009989-682F793C-EE56-468C-B8C9-01441B90451C
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/4472618
author name string	R J Wanders

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