Abstract:
:The genetic locus for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4. We have examined linkage to five chromosome 4q DNA markers in 22 multigenerational FSHD families. Multipoint linkage analyses of the segregation of four markers in the FSHD families and in 40 multigenerational mapping families from the Centre d'Etude du Polymorphisme Humaine enabled these loci and FSHD to be placed in the following order: cen-D4S171-factor XI-D4S163-D4S139-FSHD-qter. One interval, D4S171-FSHD, showed significant sex-specific differences in recombination. Homogeneity tests supported linkage of FSHD to these 4q DNA markers in all of the families we studied. The position of FSHD is consistent with that generated by other groups as members of an international FSHD consortium.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Weiffenbach B,Bagley R,Falls K,Hyser C,Storvick D,Jacobsen SJ,Schultz P,Mendell J,Willems van Dijk K,Milner ECsubject
Has Abstract,Author List Incompletepub_date
1992-08-01 00:00:00pages
416-23issue
2eissn
0002-9297issn
1537-6605journal_volume
51pub_type
杂志文章abstract::Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and progressive visual loss due to retinitis pigmentosa. The mutation that most commonly causes Usher syndrome type IIa is a 1-bp deletion, described as "2299delG," in the USH2A gene. The mutation has been identifie...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/321269
更新日期:2001-07-01 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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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/301595
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1981-01-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/301677
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journal_title:American journal of human genetics
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更新日期:2009-05-01 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.2008.06.006
更新日期:2008-07-01 00:00:00
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journal_title:American journal of human genetics
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更新日期:2004-11-01 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:1984-09-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/381559
更新日期:2004-02-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/302096
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1989-01-01 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.2007.09.021
更新日期:2008-02-01 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:1995-08-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/497438
更新日期:2005-11-01 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:1991-11-01 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.2016.06.014
更新日期:2016-08-04 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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doi:
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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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更新日期:1995-06-01 00:00:00
abstract::Bulimia nervosa (BN) is strongly familial, and additive genetic effects appear to contribute substantially to the observed familiality. In turn, behavioral components of BN, such as self-induced vomiting, are reliably measured and heritable. To identify regions of the genome harboring genetic variants conferring susce...
journal_title:American journal of human genetics
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abstract::The structural gene for the human lysosomal enzyme aspartylglucosaminidase (AGA) has been assigned to chromosome 4 using somatic cell hybridization techniques. The human monomeric enzyme was detected in Chinese hamster-human cell hybrids by a thermal denaturation assay that selectively inactivated the Chinese hamster ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1984-11-01 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:1995-10-01 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:1983-11-01 00:00:00
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