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Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis

✍ Scribed by Albert de La Chapelle; Eeva-Marja Sankila; Mikael Lindlöf; Pertti Aula; Reuo Norio


Book ID
115089244
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
401 KB
Volume
28
Category
Article
ISSN
0009-9163

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Carrier detection and prenatal diagnosis
✍ Tsang-Ming Ko; Li-Hui Tseng; Fon-Jon Hsieh; Pi-Mei Hsu; Tzu-Yao Lee 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 523 KB

Alpha-thalassemia of Southeast Asian deletion (--SEA/) is very common in Southeast Asia. Homozygosity of this genotype is the major cause of Hb Bart's hydrops fetalis in Taiwan. With polymerase chain reaction using three oligonucleotide primers bridging the common deletion breakpoint, a DNA fragment