Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 536-539, 2004.
Artículo
en Chino
| WPRIM
| ID: wpr-291384
ABSTRACT
<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>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Linaje
/
Telangiectasia Hemorrágica Hereditaria
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Antígenos CD
/
Exones
/
Mutación Puntual
/
Receptores de Superficie Celular
/
Codón sin Sentido
Tipo de estudio:
Estudio pronóstico
Límite:
Anciano
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Hematology
Año:
2004
Tipo del documento:
Artículo
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