Confirmation of the location of a Waardenburg syndrome type I mutation on human chromosome 2q. Tight linkage to FN1 and ALPP.
作者信息
Asher J H, Morell R, Friedman T B
机构信息
Department of Zoology and Genetics Program, Michigan State University, East Lansing 48824.
出版信息
Ann N Y Acad Sci. 1991;630:295-7. doi: 10.1111/j.1749-6632.1991.tb19611.x.
Abstract
摘要
相似文献
1
Confirmation of the location of a Waardenburg syndrome type I mutation on human chromosome 2q. Tight linkage to FN1 and ALPP.Ⅰ型瓦登伯革氏综合征突变在人类2号染色体上位置的确认。与FN1和ALPP紧密连锁。
Ann N Y Acad Sci. 1991;630:295-7. doi: 10.1111/j.1749-6632.1991.tb19611.x.
2
3
Localization of a gene for Waardenburg syndrome type I.I型瓦登伯格综合征基因的定位
Ann N Y Acad Sci. 1991;630:143-51. doi: 10.1111/j.1749-6632.1991.tb19583.x.
4
5
In situ hybridization applied to Waardenburg syndrome.原位杂交技术在瓦登伯革氏综合征中的应用
Cytogenet Cell Genet. 1993;63(1):29-32. doi: 10.1159/000133495.
6
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.瓦登伯格综合征的基因座异质性可预测临床亚型。
Am J Hum Genet. 1994 Oct;55(4):728-37.
7
8
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.在1型瓦登伯革氏综合征患者中观察到三种新的PAX3突变。
Hum Mutat. 1997;9(2):177-80. doi: 10.1002/(SICI)1098-1004(1997)9:2<177::AID-HUMU11>3.0.CO;2-#.
9
A highly informative dinucleotide repeat polymorphism at the D2S211 locus linked to ALPP, FN1 and TNP1.
Hum Mol Genet. 1993 Jan;2(1):88. doi: 10.1093/hmg/2.1.88.
10
A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.PAX3基因中的一个剪接连接突变导致了一个南非家庭出现瓦登伯革氏综合征。
Hum Mol Genet. 1994 Jan;3(1):197-8. doi: 10.1093/hmg/3.1.197.
Zotero 插件