Molecular genetics of phenylketonuria and its implications.
作者信息
Levy H L
机构信息
Joseph P. Kennedy, Jr. Laboratories, Neurology Service, Massachusetts General Hospital, Boston.
出版信息
Am J Hum Genet. 1989 Nov;45(5):667-70.
Abstract
摘要
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Molecular genetics of phenylketonuria and its implications.苯丙酮尿症的分子遗传学及其影响
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The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria.与单倍型2相关的密码子408突变在波兰苯丙酮尿症家庭中占主导地位。
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本文引用的文献
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The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.苯丙氨酸摄入对一名苯丙酮尿症患儿的生化指标及行为的影响。
Acta Paediatr (Stockh). 1954 Jan;43(1):64-77. doi: 10.1111/j.1651-2227.1954.tb04000.x.
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Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies.母体苯丙酮尿症和高苯丙氨酸血症。未经治疗和经治疗妊娠结局的国际调查。
N Engl J Med. 1980 Nov 20;303(21):1202-8. doi: 10.1056/NEJM198011203032104.
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Projections of a rebound in frequency of mental retardation from phenylketonuria.苯丙酮尿症导致智力发育迟缓发病率反弹的预测。
Appl Res Ment Retard. 1982;3(3):319-28. doi: 10.1016/0270-3092(82)90023-6.
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Phenylketonuria: epitome of human biochemical genetics (first of two parts).苯丙酮尿症：人类生化遗传学的缩影（两部分中的第一部分）
N Engl J Med. 1980 Dec 4;303(23):1336-42. doi: 10.1056/NEJM198012043032305.
7
Diet policies of PKU clinics in the United States.美国苯丙酮尿症诊所的饮食政策。
Am J Public Health. 1984 May;74(5):501-3. doi: 10.2105/ajph.74.5.501.
8
Gene transfer and expression of human phenylalanine hydroxylase.人苯丙氨酸羟化酶的基因转移与表达
Science. 1985 Apr 5;228(4695):77-9. doi: 10.1126/science.3856322.
9
Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.苯丙酮尿症中剪接突变与特定DNA单倍型之间的紧密连锁。
Nature. 1986;322(6082):799-803. doi: 10.1038/322799a0.
10
Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.人苯丙氨酸羟化酶全长互补DNA克隆的核苷酸序列及氨基酸序列
Biochemistry. 1985 Jan 29;24(3):556-61. doi: 10.1021/bi00324a002.
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