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Study of gene mutation in a Chinese family with Carney's complex / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism ; (12): 579-583, 2013.
Artículo en Chino | WPRIM | ID: wpr-437711
ABSTRACT
Objective To identify PRKAR1A mutations in a pedigree with Carney's complex through clinical investigation and molecular biology research,and to summarize the genetic law,characteristics,and clinical features of this family disease.Methods The family members received a detailed medical examination and related biochemical tests.The hereditary history and clinical features were recorded.DNAs of 12 family members were extracted from blood and 9 exons and adjacent introns of PRKAR1A were sequenced.Results PRKAR1A mutation intron4 c.440+4 delG was identified in 7 family members,including the proband's patient,who presented special signs of pigmentation on the lips,buccal mucosa,and fingertips.Conclusions The deletion mutation (c.440+4del G) in intron 4 of the PRKAR1A gene was found in this family,which is possibly associated with the phenotype skin pigmentation.

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Tipo de estudio: Estudio pronóstico Idioma: Chino Revista: Chinese Journal of Endocrinology and Metabolism Año: 2013 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Tipo de estudio: Estudio pronóstico Idioma: Chino Revista: Chinese Journal of Endocrinology and Metabolism Año: 2013 Tipo del documento: Artículo