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MOLECULAR PATHOLOGY OF MUTATIONS IN PAH EXON 11, IMPACT ON MRNA PROCESSING, AND POTENTIAL IMPACT ON THERAPY WITH 6R-TETRAHYDROBIOPTERIN (BH4)

dc.contributor.authorBlau, N.
dc.contributor.authorDemirkol, M.
dc.contributor.authorDobrowolski, S. F.
dc.contributor.authorAndersen, H. S.
dc.contributor.authorAndresen, B. S.
dc.contributor.authorHeintz, C.
dc.date.accessioned2021-03-03T16:25:46Z
dc.date.available2021-03-03T16:25:46Z
dc.identifier.citationHeintz C., Dobrowolski S. F. , Blau N., Demirkol M., Andersen H. S. , Andresen B. S. , "MOLECULAR PATHOLOGY OF MUTATIONS IN PAH EXON 11, IMPACT ON MRNA PROCESSING, AND POTENTIAL IMPACT ON THERAPY WITH 6R-TETRAHYDROBIOPTERIN (BH4)", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.33, 2010
dc.identifier.issn0141-8955
dc.identifier.othervv_1032021
dc.identifier.otherav_44287894-1188-4bf4-9805-9fa57ec55245
dc.identifier.urihttp://hdl.handle.net/20.500.12627/49517
dc.language.isoeng
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectTıbbi Genetik
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectYaşam Bilimleri
dc.subjectGENETİK VE HAYAT
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.titleMOLECULAR PATHOLOGY OF MUTATIONS IN PAH EXON 11, IMPACT ON MRNA PROCESSING, AND POTENTIAL IMPACT ON THERAPY WITH 6R-TETRAHYDROBIOPTERIN (BH4)
dc.typeMakale
dc.relation.journalJOURNAL OF INHERITED METABOLIC DISEASE
dc.contributor.departmentUniversity Children''s Hospital Zurich , ,
dc.identifier.volume33
dc.contributor.firstauthorID197100


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