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المؤلفون: Bar-Joseph, I., Pras, E., Reznik-Wolf, H., Marek-Yagel, D., Abu-Horvitz, A., Dushnitzky, M., Goldstein, N., Rienstein, S., Dekel, M., Pode-Shakked, B., Zlotnik, J., Benarrosh, A., Gillery, P., Hofliger, N., Auray-Blais, C., Garnotel, R., Anikster, Y.
المساهمون: Matrice extracellulaire et dynamique cellulaire - UMR 7369 (MEDyC), Université de Reims Champagne-Ardenne (URCA)-SFR CAP Santé (Champagne-Ardenne Picardie Santé), Université de Reims Champagne-Ardenne (URCA)-Université de Picardie Jules Verne (UPJV)-Université de Reims Champagne-Ardenne (URCA)-Université de Picardie Jules Verne (UPJV)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Human Genetics
Human Genetics, Springer Verlag, 2012, 131, pp.1805-1810مصطلحات موضوعية: ComputingMilieux_MISCELLANEOUS
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المؤلفون: Bar-joseph I; The Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel., Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y
المصدر: Human genetics [Hum Genet] 2012 Nov; Vol. 131 (11), pp. 1805-10. Date of Electronic Publication: 2012 Jul 24.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors/*genetics , Mitochondrial Diseases/*genetics , Mutation/*genetics , Sarcosine Dehydrogenase/*genetics, DNA/blood ; DNA/genetics ; DNA Primers/chemistry ; DNA Primers/genetics ; Female ; Humans ; Male ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Sarcosine/blood ; Sarcosine Dehydrogenase/deficiency
SCR Disease Name: Sarcosinemia