一名“健康”的昆族人红细胞腺苷脱氨酶缺乏症 - Suppr

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Red-blood-cell adenosine deaminase deficiency in a "healthy" Kung individual.

作者信息

Jenkins T

出版信息

Lancet. 1973 Sep 29;2(7831):736. doi: 10.1016/s0140-6736(73)92568-3.

DOI:10.1016/s0140-6736(73)92568-3

PMID:4125820

Abstract

摘要

相似文献

Red-blood-cell adenosine deaminase deficiency in a "healthy" Kung individual.一名“健康”的昆族人红细胞腺苷脱氨酶缺乏症

Lancet. 1973 Sep 29;2(7831):736. doi: 10.1016/s0140-6736(73)92568-3.

Adenosine deaminase deficiency: the first inborn error of metabolism noted in immunodeficiency disease.腺苷脱氨酶缺乏症：免疫缺陷疾病中首个被发现的先天性代谢缺陷。

J Pediatr. 1974 Feb;84(2):315-6. doi: 10.1016/s0022-3476(74)80655-4.

Letter: Autosomal assignment of the gene for the form of adenosine deaminase which is deficient in patients with combined immunodeficiency syndrome.信函：腺苷脱氨酶基因的常染色体定位，该酶在联合免疫缺陷综合征患者中缺乏。

Lancet. 1973 Dec 22;2(7843):1449. doi: 10.1016/s0140-6736(73)92850-x.

Adenosine-deaminase deficiency and combined immunodeficiency syndrome.腺苷脱氨酶缺乏与联合免疫缺陷综合征

Lancet. 1972 Dec 16;2(7790):1316. doi: 10.1016/s0140-6736(72)92692-x.

Adenosine deaminase deficiency in a child with severe combined immunodeficiency.一名患有严重联合免疫缺陷的儿童出现腺苷脱氨酶缺乏。

Clin Genet. 1973;4(4):344-7. doi: 10.1111/j.1399-0004.1973.tb01929.x.

Adenosine deaminase: demonstration of a "silent" gene associated with combined immunodeficiency disease.腺苷脱氨酶：与联合免疫缺陷病相关的“沉默”基因的证明。

Am J Hum Genet. 1974 Jan;26(1):103-7.

Absence of erythrocyte adenosine deaminase associated with severe combined immunodeficiency.红细胞腺苷脱氨酶缺乏与严重联合免疫缺陷相关。

J Pediatr. 1974 Feb;84(2):173-7. doi: 10.1016/s0022-3476(74)80597-4.

Further data on the adenosine deaminase (ADA) polymprphism and a report of a new phenotype.腺苷脱氨酶（ADA）多态性的更多数据及一种新表型的报告。

Ann Hum Genet. 1969 May;32(4):361-7. doi: 10.1111/j.1469-1809.1969.tb00087.x.

Red cell adenosine deaminase (ADA) polymorphism in Southern Africa, with special reference to ADA deficiency among the !Kung.南部非洲红细胞腺苷脱氨酶（ADA）多态性，特别提及昆族中的ADA缺乏症。

Ann Hum Genet. 1979 May;42(4):425-33. doi: 10.1111/j.1469-1809.1979.tb00676.x.

Evidence for control of several different tissue-specific isozymes of adenosine deaminase by a single genetic locus.单一基因座控制腺苷脱氨酶几种不同组织特异性同工酶的证据。

Nat New Biol. 1973 Dec 19;246(155):200-2. doi: 10.1038/newbio246200a0.

引用本文的文献

Genetic heterogeneity in partial adenosine deaminase deficiency.部分腺苷脱氨酶缺乏症中的遗传异质性。

J Clin Invest. 1983 Jun;71(6):1887-92. doi: 10.1172/jci110944.

Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation.具有正常免疫功能的腺苷脱氨酶缺乏症。一种酸性酶突变。

J Clin Invest. 1983 Aug;72(2):483-92. doi: 10.1172/jci110996.

Detection of the carrier state in combined immunodeficiency disease associated with adenosine deaminase deficiency.与腺苷脱氨酶缺乏相关的联合免疫缺陷病携带者状态的检测。

J Clin Invest. 1974 Apr;53(4):1194-6. doi: 10.1172/JCI107658.

Public health and genetic constitution of the San ("Bushmen"): carbohydrate metabolism and acetylator status of the Kung of Tsumkwe in the North-western Kalahari.桑人（“布须曼人”）的公共卫生与基因构成：卡拉哈里沙漠西北部楚梅布的昆人的碳水化合物代谢与乙酰化状态

Br Med J. 1974 Apr 6;2(5909):23-6. doi: 10.1136/bmj.2.5909.23.

Genetical load in man.人类的遗传负荷

Humangenetik. 1974 Jul 15;23(2):83-110. doi: 10.1007/BF00282207.

Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency.腺苷脱氨酶（ADA）缺乏症中的遗传异质性：5例部分ADA缺乏症新患者中的5种不同突变

Am J Hum Genet. 1986 Jan;38(1):13-25.

Partial adenosine deaminase deficiency: another family from southern Africa.部分腺苷脱氨酶缺乏症：来自非洲南部的另一个家族。

Hum Genet. 1986 Nov;74(3):307-12. doi: 10.1007/BF00282554.

Combined familial adenosine deaminase and purine nucleoside phosphorylase deficiencies.家族性腺苷脱氨酶和嘌呤核苷磷酸化酶联合缺乏症

Arch Dis Child. 1988 Aug;63(8):931-4. doi: 10.1136/adc.63.8.931.

Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

J Clin Invest. 1990 Aug;86(2):444-52. doi: 10.1172/JCI114730.

Heterogeneity for adenosine deaminase deficiency: Expression of the enzyme in cultured skin fibroblasts and amniotic fluid cells.腺苷脱氨酶缺乏症的异质性：该酶在培养的皮肤成纤维细胞和羊水细胞中的表达。

Am J Hum Genet. 1975 Jan;27(1):46-52.

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