About: Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

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About: Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards Goto Sponge NotDistinct Permalink

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scientific article published on August 31, 1991

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rdf:type	Item
description	article científic (ca) article scientific (oc) articol științific (ro) artigo científico (gl) artikulong pang-agham (tl) scienca artikolo (eo) teaduslik artikkel (et) tieteellinen artikkeli (fi) tudományos cikk (hu) vitenskapelig artikkel (nb) vitskapeleg artikkel (nn) επιστημονικό άρθρο (el) мақолаи илмӣ (tg) מאמר מדעי (he) სამეცნიერო სტატია (ka) บทความทางวิทยาศาสตร์ (th) artikel ilmiah (id) naučni članak (sr-el) мақолаи илмӣ (tg-cyrl) գիտական հոդված (hy) مقالة علمية (ar) سائنسی مضمون (ur) مقالهٔ علمی (fa) maqolai ilmiy (tg-latn) 1991년 논문 (ko) artículu científicu espublizáu en 1991 (ast) ১৯৯১-এ প্রকাশিত বৈজ্ঞানিক নিবন্ধ (bn) ശാസ്ത്രപ്രബന്ധം (ml) 1991 nî ê lūn-bûn (nan) 1991年の学術論文 (ja) 1991年学术文章 (zh-cn) 1991年学术文章 (zh-sg) 1991年学术文章 (zh-hans) 1991年学术文章 (wuu) 1991年学术文章 (zh-my) 1991年學術文章 (zh) 1991年學術文章 (zh-hk) 1991年學術文章 (zh-tw) 1991年學術文章 (zh-hant) 1991年學術文章 (yue) 1991年學術文章 (zh-mo) article publié dans la revue scientifique The Lancet (fr) 31 Ağustos 1991'de yayımlanmış bilimsel makale (tr) wetenschappelijk artikel gepubliceerd op 31 augustus 1991 (nl) artículo científico publicado el 31 de agosto de 1991 (es) научная статья опубликованная 31 августа 1991 г. (ru) articolo scientifico pubblicato il 31 agosto 1991 (it) artikull shkencor i botuar më 31 gusht 1991 (sq) artykuł naukowy opublikowany 31 sierpnia 1991 (pl) научна статия, публикувана на 31 август 1991 г. (bg) scientific article published on 31 August 1991 (en-gb) scientific article published on August 31, 1991 (en) научни чланак објављен 31. август 1991. (sr) научни чланак објављен 31. август 1991. (sr-ec) vedecký článok publikovaný 31. augusta 1991 (sk) vědecký článek publikovaný 31. srpna 1991 (cs) znanstveni članek objavljen 31. avgust 1991 (sl) vetenskaplig artikel publicerad den 31 augusti 1991 (sv) bài báo khoa học xuất bản ngày 31 tháng 8, 1991 (vi) наукова стаття, опублікована 31 серпня 1991 (uk) artigo científico publicado em 31 de agosto de 1991 (pt) artigo científico publicado em 31 de agosto de 1991 (pt-br) im 31. August 1991 veröffentlichter wissenschaftlicher Artikel (de) mokslinis straipsnis, publikuotas 1991 m. rugpjūčio 31 d. (lt) videnskabelig artikel offentliggjort den 31. august 1991 (da)
publication date	wds:Q48213833-5FA18C3B-4B00-4BC7-B946-2E15ACC4FBC9 wds:Q48213833-FDD3A272-3D81-4AEE-8FB8-D54136B20C06
publication date	1991-08-01 00:00:00Z (xsd:dateTime) 1991-08-31 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q48213833-88C05179-2E46-41A6-90F3-97FF13CFADC8
language of work or name	English
cites work	wds:Q48213833-0BF9D333-1A6E-4C16-BDC0-33795F50DF02 wds:Q48213833-A054556C-863E-4122-BAA2-7F9D5AD8BF79 wds:Q48213833-AD4B7F43-0F04-4F48-B033-84B565DB72AB wds:Q48213833-B1D06A69-ECCD-43C9-B23B-ACAB7EFFF2B4 wds:Q48213833-B99C6A51-E8CF-49AD-978A-74C7328F3C81 wds:Q48213833-BB2F395C-4470-4872-A037-AB4738EC7214 wds:Q48213833-E0246E7F-4859-4F28-9B99-2200C6435769 wds:Q48213833-E4DBF2B3-6087-41E4-86CE-6CD957F972A5
cites work	[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency Frequency of the G985 MCAD mutation in the general population Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency
author name string	wds:Q48213833-31B7DC0F-9DB4-49D7-A3CD-292D2B7CFF0B wds:Q48213833-359E2A6C-C795-4667-AC9C-93BCA85DD1B9 wds:Q48213833-47B3764D-B48D-4540-88A5-54EDFBB06951 wds:Q48213833-73BCE420-A904-4E6D-8EDE-E3BC133D08C4 wds:Q48213833-A21EED52-0DFC-4B3E-AFE2-7BA7E9D4CD01 wds:Q48213833-DEBB743B-B821-4361-92E2-37C68CA070FE wds:Q48213833-E7688EE7-ED6E-4780-A73F-1DB698889B97 wds:Q48213833-F96BEB07-CD6D-4ECF-9AC2-7ABB61FC2DF1
author name string	H. Ikeda D. M. Danks E. R. McCabe K. Tada

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