Analysis of Mutations in COL7A1 Gene in a Hallopeau-Siemens Variant of Recessive Dystrophic Epidermolysis Bullosa / 中华皮肤科杂志
Chinese Journal of Dermatology
;
(12)2003.
Artigo
em Chinês
| WPRIM
| ID: wpr-525817
ABSTRACT
Objective To identify C0L7Al gene mutations in a family of recessive dystrophic epidermolysis bullosa (RDEB). Methods PCR and direct DNA sequencing were used to determine the mutation sites and types. PCR using allele-specific oligonucleotide primers was performed to further identify the pathogenic cause of this disease. Results The patient examined in this study was a compound heterozygote for a S48P missense mutation in exon 2 and a 3625del 11 PTC mutation in exon 27, which was a novel combination of COL7Al mutations in RDEB. Conclusion The missense mutation and the nonsense mutation in COL7Al gene are underlying causes of the Hallopeau-Siemens variant of RDEB.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Dermatology
Ano de publicação:
2003
Tipo de documento:
Artigo
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