位点 | 表型 | 表型 MIM 编号 | 遗传方式 | 基因 | 基因 MIM 编号 |
12 q 23.2 | Phenylketonuria(PKU) | 261600 | AR | PAH | 612349 |
12 q 23.2 | [Hyperphenylalaninemia,non-PKU mild] | 261600 | AR | PAH | 612349 |
11 q 23.1 | Hyperphenylalaninemia,BH 4-deficient,A | 261640 | AR | PTS | 612719 |
14 q 22.2 | Hyperphenylalaninemia,BH 4-deficient,B | 233910 | AR | GCH1 | 600225 |
4 p 15.32 | Hyperphenylalaninemia,BH 4-deficient,C | 261630 | AR | QDPR | 612676 |
10 q 22.1 | Hyperphenylalaninemia,BH 4-deficient,D | 264070 | AR | PCBD1 | 126090 |
10 q 21.3 | Hyperphenylalaninemia,mild,non-BH 4-deficient | 617384 | AR | DNAJC12 | 606060 |
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文献评审日期:2023-07-20
2. AuerbachVH, DiGeorgeAM, CarpenterGC, et al. Phenylalaninemia: a study of the diversity of disorders which produce elevation of blood concentrations of phenylalanine[M]. In: Nyhan WL: Amino Acid Metabolism and Genetic Variation. New York: McGraw-Hill, 1967. 11-68.
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