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Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

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Dades bibliogràfiques
Autors principals: Halliday, D, Hutchinson, S, Lonie, L, Hurst, J, Firth, H, Handford, P, Wordsworth, P
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2002
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735209/
https://ncbi.nlm.nih.gov/pubmed/12161601
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.8.589
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