Abstract:
:A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using a combination of chromosome painting and FISH with YACs and cosmids, it has been possible to map these breakpoints within the critical HOS1 interval and thus provide a focus for HOS gene-identification efforts.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Terrett JA,Newbury-Ecob R,Smith NM,Li QY,Garrett C,Cox P,Bonnet D,Lyonnet S,Munnich A,Buckler AJ,Brook JDsubject
Has Abstractpub_date
1996-12-01 00:00:00pages
1337-41issue
6eissn
0002-9297issn
1537-6605journal_volume
59pub_type
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journal_title:American journal of human genetics
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更新日期:1992-12-01 00:00:00
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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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更新日期:1978-05-01 00:00:00
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journal_title:American journal of human genetics
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更新日期:1992-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
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更新日期:1996-10-01 00:00:00
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更新日期:1996-10-01 00:00:00
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journal_title:American journal of human genetics
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doi:
更新日期:1982-11-01 00:00:00
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journal_title:American journal of human genetics
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doi:
更新日期:1992-09-01 00:00:00
abstract::Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to chromosome 1p remains controversial. We examined the relationship between CMM/DN and markers D1S47, PND, and D1S160 on seven new families (set B) plus updated versions of six previously reported families (set A). Three l...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1993-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338997
更新日期:2002-03-01 00:00:00
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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
doi:10.1086/301862
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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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