Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases.
作者信息
Cathelineau L, Saudubray J M, Polonovski C
出版信息
Enzyme. 1974;18(1):103-13. doi: 10.1159/000459417.
PMID:4852265
Abstract
摘要
相似文献
1
Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases.
Enzyme. 1974;18(1):103-13. doi: 10.1159/000459417.
2
Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.由于肝脏鸟氨酸转氨甲酰酶缺陷导致的高氨血症。
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A fatal variant of human ornithine carbamoyltransferase is stimulated by Mg2+.
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Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症X连锁显性遗传的证据。
N Engl J Med. 1973 Jan 4;288(1):7-12. doi: 10.1056/NEJM197301042880102.
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[Hereditary hyperammonemia due to qualitative abnormality of hepatic and intestinal ornithine carbamoyl-transferase].[由于肝脏和肠道鸟氨酸氨基甲酰转移酶的质量异常导致的遗传性高氨血症]
Arch Fr Pediatr. 1972 Aug-Sep;29(7):713-36.
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A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
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Ornithine carbamyl transferase: the effects of pH on the kinetics of a mutant human enzyme.
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Immunochemical assay in 16 boys with ornithine transcarbamylase deficiency.
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[An adult case of familial ornithine transcarbamylase deficiency].[一例成人家族性鸟氨酸转氨甲酰酶缺乏症病例]
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引用本文的文献
1
Carrier detection in ornithine transcarbamylase deficiency.
J Inherit Metab Dis. 1982;5(1):37-40. doi: 10.1007/BF01799752.
2
Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.利用胎儿肝活检进行鸟氨酸转氨甲酰酶缺乏症的产前诊断。
Am J Hum Genet. 1984 Mar;36(2):320-8.
3
X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.人类肝脏中的X染色体失活：鸟氨酸转氨甲酰酶X连锁的确认
Am J Hum Genet. 1976 Jul;28(4):332-8.
4
Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.具有稀毛突变的小鼠中异常的鸟氨酸氨甲酰基转移酶
Proc Natl Acad Sci U S A. 1976 May;73(5):1693-7. doi: 10.1073/pnas.73.5.1693.
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