We report the spectrum of phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) residing in Lithuania. A total of 184 independent chromosomes was investigated. R408W mutation was first analysed through restriction enzyme digestion of exon 12. The remaining uncharacter
The molecular basis of phenylketonuria in Koreans
β Scribed by Dong Hwan Lee; Soo Kyung Koo; Kwang-Soo Lee; Young-Joo Yeon; Hyun-Jeong Oh; Sang-Wun Kim; Sook-Jin Lee; Sung-Soo Kim; Jong-Eun Lee; Inho Jo; Sung-Chul Jung
- Book ID
- 106251832
- Publisher
- Nature Publishing Group
- Year
- 2004
- Tongue
- English
- Weight
- 205 KB
- Volume
- 49
- Category
- Article
- ISSN
- 1435-232X
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