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Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea

Congenital analbuminemia (CAA) is an autosomal recessive disease characterized by extremely low serum levels of albumin. CAA is caused by various homozygous or heterozygous mutations of the ALB gene. Patients often exhibit no clinical symptoms, aside from rare accompanying conditions, such as fatigu...

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Detalles Bibliográficos
Autores principales: Kim, Youngji, Yang, Ye Seul, Park, Sung Sup, Kim, Man Jin, Shin, Cheol Min, Choi, Sung Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597461/
https://www.ncbi.nlm.nih.gov/pubmed/31250585
http://dx.doi.org/10.3349/ymj.2019.60.7.700