dc.contributor.author | Blau, N. | |
dc.contributor.author | Demirkol, M. | |
dc.contributor.author | Dobrowolski, S. F. | |
dc.contributor.author | Andersen, H. S. | |
dc.contributor.author | Andresen, B. S. | |
dc.contributor.author | Heintz, C. | |
dc.date.accessioned | 2021-03-03T16:25:46Z | |
dc.date.available | 2021-03-03T16:25:46Z | |
dc.identifier.citation | Heintz 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.issn | 0141-8955 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_44287894-1188-4bf4-9805-9fa57ec55245 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/49517 | |
dc.language.iso | eng | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | TIP, ARAŞTIRMA VE DENEYSEL | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | İç Hastalıkları | |
dc.subject | Endokrinoloji ve Metabolizma Hastalıkları | |
dc.subject | Tıbbi Genetik | |
dc.subject | Tıbbi Ekoloji ve Hidroklimatoloji | |
dc.subject | Yaşam Bilimleri | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Temel Bilimler | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | ENDOKRİNOLOJİ VE METABOLİZMA | |
dc.title | MOLECULAR PATHOLOGY OF MUTATIONS IN PAH EXON 11, IMPACT ON MRNA PROCESSING, AND POTENTIAL IMPACT ON THERAPY WITH 6R-TETRAHYDROBIOPTERIN (BH4) | |
dc.type | Makale | |
dc.relation.journal | JOURNAL OF INHERITED METABOLIC DISEASE | |
dc.contributor.department | University Children''s Hospital Zurich , , | |
dc.identifier.volume | 33 | |
dc.contributor.firstauthorID | 197100 | |