Detection of ATP2C1 gene mutation in familial benign chronic pemphigus / 华中科技大学学报(医学)(英德文版)
Journal of Huazhong University of Science and Technology (Medical Sciences)
;
(6): 585-6, 589, 2005.
Artigo
em Inglês
| WPRIM
| ID: wpr-640997
ABSTRACT
The ATP2C1 gene mutation in one case of familial benign chronic pemphigus was investigated. One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2C1 gene was detected by polymerase chain reaction (PCR) and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was concluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Pênfigo Familiar Benigno
/
Deleção de Sequência
/
ATPases Transportadoras de Cálcio
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Journal of Huazhong University of Science and Technology (Medical Sciences)
Ano de publicação:
2005
Tipo de documento:
Artigo
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