Genetic epidemiology of Lesch-Nyhan disease.
作者信息
Morton N E, Lalouel J M
出版信息
Am J Hum Genet. 1977 May;29(3):304-11.
Abstract
摘要
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Segregation analysis in human genetics.人类遗传学中的分离分析。
Science. 1958 Jan 10;127(3289):79-80. doi: 10.1126/science.127.3289.79.
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Diagnosis and treatment of the Lesch-Nyhan syndrome.莱施-奈恩综合征的诊断与治疗。
Pediatr Res. 1972 May;6(5):504-13. doi: 10.1203/00006450-197205000-00004.
6
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.X连锁隐性莱施-奈恩病中新突变的发生情况。
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7
Carrier detection in Duchenne muscular dystrophy.杜氏肌营养不良症的携带者检测
N Engl J Med. 1976 Jan 22;294(4):193-8. doi: 10.1056/NEJM197601222940404.
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Spontaneous mutation in man.人类的自发突变。
Adv Hum Genet. 1975;5:223-318. doi: 10.1007/978-1-4615-9068-2_4.
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Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).X连锁尿酸尿症（莱施-奈恩综合征及其变异型）中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的遗传性缺乏。
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