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Chinese Journal of Hematology ; (12): 536-539, 2004.
Artigo em Chinês | WPRIM | ID: wpr-291384

RESUMO

<p><b>OBJECTIVE</b>To identify the gene mutations in a pedigree with hereditary hemorrhagic telangiectasia.</p><p><b>METHODS</b>Genomic DNA was extracted from the peripheral blood of the propositus. All of the exons, intron/exon boundaries and the 5' untranslation regions (UTR) of the ALK-1 and endoglin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing.</p><p><b>RESULTS</b>The mutation is a C1437T substitution in exon 10 of the ALK-1 gene, resulting in Arg 479 Stop.</p><p><b>CONCLUSION</b>The hereditary hemorrhagic telangiectasia propositus is caused by a heterozygous Arg 479 Stop mutation in the ALK-1 gene which has not been identified previously.</p>


Assuntos
Idoso , Feminino , Humanos , Masculino , Receptores de Activinas Tipo II , Genética , Antígenos CD , Genética , Sequência de Bases , Códon sem Sentido , Análise Mutacional de DNA , Éxons , Genética , Linhagem , Mutação Puntual , Receptores de Superfície Celular , Genética , Telangiectasia Hemorrágica Hereditária , Genética , Patologia
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