dc.contributor.author | Salier, J.P. | fr_FR |
dc.contributor.author | Kurachi, S. | fr_FR |
dc.contributor.author | Kurachi, K. | fr_FR |
dc.date.accessioned | 2013-02-15T11:59:34Z | |
dc.date.available | 2013-02-15T11:59:34Z | |
dc.date.issued | 1994 | fr_FR |
dc.identifier.citation | Salier, J.P. ; Kurachi, S. ; Kurachi, K., Hémophilie B Leyden : les corrections naturelles d'un déficit temporaire de transcription, Med Sci (Paris), 1994, Vol. 10, N° 2; p.186-194 | fr_FR |
dc.identifier.issn | 1958-5381 | fr_FR |
dc.identifier.uri | http://hdl.handle.net/10608/2585 | |
dc.description.abstract | An enzyme deficiency where a normal level of an abnormal protein is accounted for by a mutation within a coding region of the corresponding gene is common place in human pathology. Thus, hemophilia B which involves mutations in the coagulation factor IX gene, most often results from deleterious amino-acid changes in the protein sequence. In other, more limited, instances, and enzyme deficiency is accounted for by a mutation in a regulatory region of a gene or a noncoding region of its transcript. These mutations eventually result in a poor transcription or translation efficiency which is responsible for a low level of a normal protein. A further situation involves a unique step where a weakened transcription, induced by a mutation in a regulatory region of a gene, is secondarily restored to a (sub)normal level by the late appearance of development-associated transcription factor(s). This is examplified by the so-called Leyden phenotype, a rare case of transient haemophilia B. The patients suffering from this disease first present with bleeding disorders and a marked deficiency of a normal factor IX in plasma. However, after puberty they gradually recover from the disease as the plasma factor IX level increases to a sub-normal level. A testosterone-induced triggering of a mutated promoter in the factor IX gene accounts for this phenotype. | fr |
dc.language.iso | fr | fr_FR |
dc.publisher | John Libbey Eurotext, Montrouge | fr_FR |
dc.rights | Article en libre accès | fr |
dc.rights | Médecine/Sciences - Inserm - SRMS | fr |
dc.source | M/S. Médecine sciences [revue papier, ISSN : 0767-0974], 1994, Vol. 10, N° 2; p.186-194 | fr_FR |
dc.title | Hémophilie B Leyden : les corrections naturelles d'un déficit temporaire de transcription | fr |
dc.type | Article | fr_FR |
dc.identifier.doi | 10.4267/10608/2585 | |