由胆色素原脱氨酶辅因子结合裂隙中精氨酸到组氨酸的替换（R26H）引起的急性间歇性卟啉症。 - Suppr | 超能文献

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Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.由胆色素原脱氨酶辅因子结合裂隙中精氨酸到组氨酸的替换（R26H）引起的急性间歇性卟啉症。

Hum Mol Genet. 1993 Aug;2(8):1315-6. doi: 10.1093/hmg/2.8.1315.

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Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping.

Hum Genet. 1993 Dec;92(6):549-53. doi: 10.1007/BF00420937.

3

[The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia].

Ter Arkh. 2000;72(7):5-8.

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Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.新型人类病理突变。基因符号：HMBS。疾病：急性间歇性卟啉病。

Hum Genet. 2009 Apr;125(3):347.

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Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte porphobilinogen deaminase activity in Germany.急性间歇性卟啉症的异质性：德国一种红细胞胆色素原脱氨酶活性正常的亚型。

Eur J Clin Chem Clin Biochem. 1996 Aug;34(8):613-8. doi: 10.1515/cclm.1996.34.8.613.

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Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.通过对体外扩增的cDNA进行直接测序，检测急性间歇性卟啉病患者胆色素原脱氨酶基因中的七个点突变。

Hum Genet. 1992 Sep-Oct;90(1-2):12-6. doi: 10.1007/BF00210738.

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Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.急性间歇性卟啉病中胆色素原脱氨酶基因的两种新突变

Hum Mol Genet. 1993 Oct;2(10):1735-6. doi: 10.1093/hmg/2.10.1735.

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A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria.

Jpn J Hum Genet. 1995 Jun;40(2):207-13. doi: 10.1007/BF01883579.

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Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.急性间歇性卟啉病中胆色素原（PBG）脱氨酶基因突变的分子分析：对斯拉夫裔患者的首次研究。

Scand J Clin Lab Invest. 1997 May;57(3):217-24. doi: 10.3109/00365519709060030.

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Novel single nucleotide polymorphism (9678G-->A) for linkage analysis of acute intermittent porphyria.用于急性间歇性卟啉症连锁分析的新型单核苷酸多态性（9678G→A）

Clin Chem. 1999 Feb;45(2):308-9.

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First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.首例因羟甲基胆色素原合酶基因突变导致急性间歇性卟啉症的低频镶嵌突变报告。

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