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510583 PAH

510583

PAH

phenylalanine hydroxylase

protein-coding

Bos taurus

基因描述

Type Description
Definition phenylalanine hydroxylase

研究结论

Date Results Publications
2010-01-21 00:00:00 Non-responsiveness to 20 mg/kg BH4 was observed in a single patient who was compound heterozygous for the novel mutation R176P (c.527G>C) and the common nullmutation P281L. 12655554

名称对应

Type IDs
Gene
UniProtKB-ID: PH4H_BOVIN
UniprotKB: Q2KIH7
UniParc: UPI0000693E2A
EMBL: BT030585, BC112633
Ensembl: ENSBTAG00000012794
KO: bta:510583
Nucleutide sequences
EMBL-CDS: AAI12634.1, ABQ13025.1
Ensembl_TRS: ENSBTAT00000076031
Protein sequencees
Ensembl_PRO: ENSBTAP00000065971
RefSeq: NP_001039523.1
Others
UniRef100: UniRef100_Q2KIH7
UniRef90: UniRef90_Q2KIH7
UniRef50: UniRef50_Q2KIH7
UniGene: Bt.61435

全选

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研究热度

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