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Pigmentation, pleiotropy, and genetic pathways in humans and mice.

作者信息

Barsh G S

出版信息

Am J Hum Genet. 1995 Oct;57(4):743-7.

PMID:7573031
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1801509/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2f75/1801509/9547df26d3a4/ajhg00036-0009-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2f75/1801509/9547df26d3a4/ajhg00036-0009-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2f75/1801509/9547df26d3a4/ajhg00036-0009-a.jpg

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本文引用的文献

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Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote.性连锁眼白化病在女性杂合子中表现出典型的眼底改变。
Am J Ophthalmol. 1951 May;34(5 2):41-50. doi: 10.1016/0002-9394(51)90007-4.
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Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies.白化病伴出血素质及骨髓中异常色素沉着的网状细胞:两例报告及组织化学研究
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Quantitative trait loci that modify the severity of spotting in piebald mice.
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Waardenburg syndrome.瓦登伯革氏综合征
J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656.
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The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.1型眼白化病基因产物是一种定位于黑素小体的膜糖蛋白。
Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):9055-60. doi: 10.1073/pnas.93.17.9055.
影响花斑小鼠斑点严重程度的数量性状基因座。
Genome Res. 1995 Aug;5(1):29-41. doi: 10.1101/gr.5.1.29.
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Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.
Hum Mol Genet. 1995 Sep;4(9):1665-9. doi: 10.1093/hmg/4.9.1665.
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Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function.变异延伸位点等位基因的色素沉着表型源于改变MSH受体功能的点突变。
Cell. 1993 Mar 26;72(6):827-34. doi: 10.1016/0092-8674(93)90572-8.
6
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.
Hum Mol Genet. 1993 Jul;2(7):947-52. doi: 10.1093/hmg/2.7.947.
7
A high resolution deletion map of human chromosome Xp22.人类X染色体短臂22区的高分辨率缺失图谱。
Nat Genet. 1993 Jul;4(3):272-9. doi: 10.1038/ng0793-272.
8
Hermansky-Pudlak syndrome in a Swiss population.瑞士人群中的赫尔曼斯基-普德拉克综合征。
Dermatology. 1993;187(4):248-56. doi: 10.1159/000247258.
9
Mutations of the RET proto-oncogene in Hirschsprung's disease.先天性巨结肠症中RET原癌基因的突变
Nature. 1994 Jan 27;367(6461):378-80. doi: 10.1038/367378a0.
10
A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).一名患有孤立性X连锁眼部白化病(OA1)患者的亚显微缺失。
Hum Mol Genet. 1994 Apr;3(4):647-8. doi: 10.1093/hmg/3.4.647.