Article
Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan.
American journal of respiratory and critical care medicine - 1 Dec 1995
Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S
Abstract excerpt
In contrast to the fact that alpha 1-antitrypsin (alpha 1-AT) deficiency is one of the most common hereditary disorders of Caucasians, deficient variants among Orientals have been recognized to be extremely rare. Only 12 cases of alpha 1-AT deficiency have been reported in Japan, including five c...
Topics
- Adult
- Alleles
- Base Sequence
- Female
- Haplotypes
- Humans
- Japan
- Lung Diseases, Obstructive
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Prevalence
- Pulmonary Emphysema
- alpha 1-Antitrypsin