About: Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency

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About: Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency 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) научни чланак (sr) מאמר מדעי (he) სამეცნიერო სტატია (ka) บทความทางวิทยาศาสตร์ (th) bài báo khoa học (vi) naučni članak (sr-el) мақолаи илмӣ (tg-cyrl) научни чланак (sr-ec) scientific article (en) سائنسی مضمون (ur) مقالهٔ علمی (fa) 1991 nî lūn-bûn (nan) 1991年の論文 (ja) 1991年論文 (zh-hk) 1991年論文 (zh-tw) 1991年論文 (zh-hant) 1991年論文 (yue) 1991年論文 (zh-mo) 1991年论文 (zh) 1991年论文 (zh-cn) 1991年论文 (zh-sg) 1991年论文 (zh-hans) 1991年论文 (wuu) 1991年论文 (zh-my) 1991년 논문 (ko) artigo científico (publicado na 1991) (pt-br) artículo científico publicado en 1991 (es) artículu científicu espublizáu en 1991 (ast) vědecký článek publikovaný v roce 1991 (cs) ১৯৯১-এ প্রকাশিত বৈজ্ঞানিক নিবন্ধ (bn) article scientifique (publié 1991-12) (fr) articolo scientifico (pubblicato il 1991-12) (it) artigo científico (publicado na 1991-12) (pt) vedecký článok (publikovaný 1991-12) (sk) vetenskaplig artikel (publicerad på 1991-12) (sv) videnskabelig artikel (udgivet 1991-12) (da) wetenschappelijk artikel (gepubliceerd op 1991-12) (nl) مقالة علمية (نشرت في ديسمبر 1991) (ar) wissenschaftlicher Artikel (veröffentlicht in 1991-12) (de) наукова стаття, опублікована в грудні 1991 (uk) 1991 թվականի դեկտեմբերին հրատարակված գիտական հոդված (hy) 1991 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած (hyw)
publication date	wds:Q24515023-06F24912-8D0A-43A3-935E-8FB9B87D870E
publication date	1991-12-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q24515023-91FD8FBF-071E-4326-ABD5-3054DB954407
language of work or name	English
cites work	wds:Q24515023-06EDE1CF-5E45-4C0C-8271-D8887833D2F0 wds:Q24515023-1DA3A1D8-5D33-4E5E-83D2-63CB13806C72 wds:Q24515023-1FD7AFE1-470A-45D6-B35E-D98D133DD8F2 wds:Q24515023-20A0F010-07D7-42AC-9384-E664B4F03611 wds:Q24515023-27DF78E2-2A4D-46C5-BC99-9F0024832081 wds:Q24515023-5F82EC59-BE0D-44E0-B7E9-BA1BC2FD7D0F wds:Q24515023-64E6EEB2-4E69-4431-96FD-B4E80A7517AE wds:Q24515023-73C6B904-F400-4D51-B47F-8C0621FFA194 wds:Q24515023-8FCBFD96-33E7-4F49-A581-8F5934323D87 wds:Q24515023-9F55052C-8FD3-4266-AD96-24F366DC5A2D wds:Q24515023-C6163D7A-5173-4C05-9547-A5B3E4DC150D wds:Q24515023-C9A7B77B-EFBE-40DC-A91F-91D386A2D54B wds:Q24515023-DAAB7066-9E01-4A4F-B7A1-354A72FB6C95
cites work	An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene Molecular pathology of haemophilia B Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency A rapid method for the purification of DNA from blood Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene CpG dinucleotides are mutation hot spots in phenylketonuria Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus Structure of the human ornithine transcarbamylase gene. Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency
author name string	wds:Q24515023-B3D0879F-6E06-4AC7-8522-BD8FC2747E19 wds:Q24515023-B7EA33FC-4C22-478C-969B-E72CB9847614 wds:Q24515023-C057AC93-5866-4EEB-BB53-A1E5426EBFED
author name string	P Rutland S Malcolm S Strautnieks
rdfs:label	Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency (en) Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency (nl)

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