Abstract:
:Extended genealogical studies stretching back to the 17th century were performed concerning the heredity patterns of vitreous involvement in Swedish patients with familial amyloidotic polyneuropathy (FAP). FAP is an autosomal dominant inherited disorder, characterized by extracellular deposition of amyloid and a clinical syndrome of peripheral and autonomic neuropathy. In addition, some patients show typical vitreous opacities. All patients had their origin in a restricted geographical area. Some main patterns arose from this study: 1) Patients who had vitreous opacities as the first symptom of FAP seem to form a separate group, with a distinct age of onset distribution; 2) The familial occurrence of vitreous opacities raises the possibility that other familial factors modify the expression of the FAP gene; 3) The mean age of onset for vitreous opacities is lower for homozygous than for heterozygous patients.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Sandgren O,Drugge U,Holmgren G,Sousa Adoi
10.1111/j.1399-0004.1991.tb03117.xsubject
Has Abstractpub_date
1991-12-01 00:00:00pages
452-60issue
6eissn
0009-9163issn
1399-0004journal_volume
40pub_type
杂志文章abstract::An isodicentric X-chromosome idic(X) (pter----q26.1::q26.1----pter) was found in lymphocytes and ovarian tissue of a 40-year-old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype-karyotype correlation of our case and of previously described non-mosaic cases of idic(X) (q::q) with diffe...
journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1987.tb03317.x
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1983.tb00449.x
更新日期:1983-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1983.tb00077.x
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1989-10-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01346.x
更新日期:2010-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.2011.01747.x
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04150.x
更新日期:1994-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2000.580305.x
更新日期:2000-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.610210.x
更新日期:2002-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb02765.x
更新日期:1987-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12968
更新日期:2017-11-01 00:00:00
abstract::Red hair color (RHC) was studied in a Danish material of normal families that was tested earlier for 65 marker systems. We found 4.85% of the parents to be red-haired or to have been so early in life. Scoring RHC for linkage as an autosomal dominant against blond and as hypostatic to dark hair gave a lod score of z = ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03339.x
更新日期:1987-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1978.tb02057.x
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pub_type: 杂志文章
doi:10.1111/cge.13532
更新日期:2019-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1994.tb04215.x
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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更新日期:1994-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12621
更新日期:2016-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb00123.x
更新日期:1980-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12201
更新日期:2014-05-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2012.01845.x
更新日期:2012-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/cge.13230
更新日期:2018-06-01 00:00:00