Abstract:
:Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin gene clusters on chromosome 12 or chromosome 17. Although these keratin gene loci are not defined by RFLPs, several mapped RFLPs in the same chromosomal regions could be tested for linkage. A large EBS family with 14 affected and 12 unaffected individuals in three generations was analyzed for RFLP inheritance. Within this family there was no evidence for linkage of the EBS mutation to markers on chromosome 17q. However, there was evidence for close linkage to D12S17 located on chromosome 12q, with a maximum LOD score of 5.55 at theta = 0. Mapping of this mutation to chromosome 12 defines an EBS locus distinct from both EBS1 (Ogna) and EBS2 (Koebner), which are on chromosomes 8 and 1, respectively. Further mapping will determine whether this EBS locus on chromosome 12 resides within the keratin gene cluster at 12q11-q13.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Ryynänen M,Knowlton RG,Uitto Jsubject
Has Abstractpub_date
1991-11-01 00:00:00pages
978-84issue
5eissn
0002-9297issn
1537-6605journal_volume
49pub_type
杂志文章abstract::We describe a log-linear method for analysis of case-parent-triad data, based on maximum likelihood with stratification on parental mating type. The method leads to estimates of association parameters, such as relative risks, for a single allele, and also to likelihood ratio chi2 tests (LRTs) of linkage disequilibrium...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/301802
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
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pub_type: 杂志文章
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更新日期:2009-12-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/302655
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更新日期:2009-02-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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更新日期:1995-08-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2014.06.006
更新日期:2014-07-03 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/515457
更新日期:1997-06-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/514877
更新日期:1997-10-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2019.12.011
更新日期:2020-02-06 00:00:00
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journal_title:American journal of human genetics
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更新日期:2018-11-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1982-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1994-08-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/345819
更新日期:2003-01-01 00:00:00
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journal_title:American journal of human genetics
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更新日期:1996-04-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1982-01-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/423900
更新日期:2004-09-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 历史文章,杂志文章
doi:
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journal_title:American journal of human genetics
pub_type: 杂志文章
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更新日期:2004-05-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1990-06-01 00:00:00
abstract::Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying "causal" rare variants also requires large-scale meta-analysis. The fact that association tests with rare variants are perf...
journal_title:American journal of human genetics
pub_type: 杂志文章,meta分析
doi:10.1016/j.ajhg.2013.06.011
更新日期:2013-08-08 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2016.04.009
更新日期:2016-06-02 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338007
更新日期:2002-01-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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更新日期:1995-12-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1981-11-01 00:00:00