X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2
نویسندگان
چکیده
منابع مشابه
the effectiveness of strategy-based instruction in teaching english as a second or foreign language: a meta-analysis of experimental studies
a large number of single research studies on the effects of strategy-based instruction (sbi) in teaching english as a foreign or second language has been conducted so far. however, the lack of a comprehensive meta-analysis targeting the effectiveness of english language sbi is observed. moreover, the findings of experimental studies regarding the context of the english language, proficiency lev...
Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus
PURPOSE To map and identify the genetic mutation underlying X-linked congenital nystagmus in a Chinese family. METHODS Genomic DNA was prepared from peripheral blood, and linkage analysis was performed using short tandem repeat (STR) polymorphism markers. We used Cyrillic software to manage pedigree and haplotype data and used MLINK to calculate LOD scores. Dye-terminator cycle-sequencing was...
متن کاملA novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
BACKGROUND Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA). METHODS A polymerase chain reaction-mediated restriction fragment length polymorphism (RFLP) assay was used. RESULTS A G527T point mutation was identified. This resulted in a substitution of tyrosine for asparagine at residue 159 ...
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آزمون انطباقی رایانه ای (cat) روشی نوین برای سنجش سطح علمی دانش آموزان می باشد. در حقیقت آزمون های رایانه ای با سرعت بالایی به سمت و سوی جایگزین عملی برای آزمون های کاغذی می روند (کینگزبری، هاوسر، 1993). مقاله حاضر به دنبال آزمون انطباقی رایانه ای برای ترجمه می باشد. بدین منظور دو پرسشنامه مشتمل بر 55 تست ترجمه میان 102 آزمودنی و 10 مدرس زبان انگلیسی پخش گردید. پرسشنامه اول میان 102 دانشجوی س...
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ژورنال
عنوان ژورنال: Annals of Translational Medicine
سال: 2020
ISSN: 2305-5839,2305-5847
DOI: 10.21037/atm.2020.02.80