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Record Nr. |
UNINA9910146163703321 |
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Autore |
Romagno Daniela |
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Titolo |
Geni TBX e patologia umana / / Daniela Romagno |
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Pubbl/distr/stampa |
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Firenze, : Firenze university press, 2002 |
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ISBN |
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Descrizione fisica |
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1 online resource (78 p.) |
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Collana |
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Scuole di dottorato |
Tesi: Scienze / Università degli studi di Firenze ; ; 1 |
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Disciplina |
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Soggetti |
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Genetics |
Pathology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Genetic Phenomena |
DNA-Binding Proteins |
Transcription Factors |
Proteins |
Disease |
Amino Acids, Peptides, and Proteins |
Drug Therapy |
Mutagenesis |
T-Box Domain Proteins |
Congenital Abnormalities |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Note generali |
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Nota di bibliografia |
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Includes bibliographical references. |
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Sommario/riassunto |
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TBX genes belong to a family of homeotic genes (t-boxes) for which it has been proved that gene mutations have serious consequences on the development. In particular, there is significant evidence to support the involvement of the TBX1 gene in DiGeorge / Velocardiofacial syndrome (DGS/VCFS) and it has been proved that the TBX3 and TBX5 genes are implicated, respectively, in UMS (Ulnar Mammary Syndhrome) and in Holt-Oram syndrome (HOS). The book collects information available in the literature up to October 2001 on human TBX genes. The |
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