Genetic mosaicism: what Gregor Mendel didn't know.
作者信息
Hirschhorn R
出版信息
J Clin Invest. 1995 Feb;95(2):443-4. doi: 10.1172/JCI117682.
Abstract
摘要
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Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.一个患有X连锁性肌管性肌病的家族中存在广泛的生殖腺嵌合现象，这模拟了遗传异质性。
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A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).婴儿型糖原贮积病II型（GSDII）中一个新发现的13个核苷酸的从头缺失、一个新鉴定的C647W错义突变以及外显子18的缺失。
Hum Mol Genet. 1994 Jul;3(7):1081-7. doi: 10.1093/hmg/3.7.1081.
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Self-induced correction of the genetic defect in tyrosinemia type I.I型酪氨酸血症遗传缺陷的自我诱导纠正。
J Clin Invest. 1994 Oct;94(4):1657-61. doi: 10.1172/JCI117509.
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Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.女性生殖系嵌合体是导致X连锁重症联合免疫缺陷的一种独特的白细胞介素-2受体γ链突变的起源。
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Review and hypotheses: somatic mosaicism: observations related to clinical genetics.综述与假说：体细胞镶嵌现象：与临床遗传学相关的观察
Am J Hum Genet. 1988 Oct;43(4):355-63.
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