CareLit Fachartikel

Suggestive linkage of a putative genetic risk factor for cervical artery dissections to chromosome region 15q2

S Hyrenbach, P Bambul, T Wiest, B Moormann, A Pezzini, O Busse, I Hausser, T Brandt, C Grond-Ginsbach · Aktuelle Neurologie · 2004 · Heft 09

Dokument
802019
CareLit-ID
Jahr
2004
Publikation
PDF
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Metadaten
DOI
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Zeitschrift
Aktuelle Neurologie
Autor:innen
S Hyrenbach, P Bambul, T Wiest, B Moormann, A Pezzini, O Busse, I Hausser, T Brandt, C Grond-Ginsbach
Ausgabe
Heft 09 / 2004
Seiten
–
Erschienen: 2004-09-07 00:00:00
ISSN
0302-4350

Zusammenfassung

Background: Cervical artery dissections are associated with connective tissue aberrations that can be diagnosed by electron microscopic investigation of a skin biopsy. In a study of patients as well as their healthy relatives the connective tissue aberrations were shown to be familial with an autosomal dominant pattern of inheritance. Methods: We studied here skin biopsies from two patients and from 13 relatives. In a subsequent genetic linkage analysis we searched for a candidate susceptibility locus for the connective tissue phenotype. DNA was isolated from venous blood samples and investigated with 470 autoso…

Schlagworte

Aktuelle Neurologie