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Exclusion mapping of the genetic predisposition for cervical artery dissections by linkage analysis
Author(s) -
GrondGinsbach Caspar,
Klima Bernhard,
Weber Ralf,
Striegel Johannes,
Fischer Christine,
Hacke Werner,
Brandt Tobias,
Hausser Ingrid
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10268
Subject(s) - genetic linkage , genetics , mutation , dissection (medical) , medicine , candidate gene , linkage (software) , odds ratio , gene , pathology , biology , anatomy
Skin biopsies from a patient with a dissection of the left internal carotid artery and from four of his children were analyzed by electron microscopy. The index patient and three children showed mild but regular electron microscopic connective tissue aberrations. They were considered as carriers of an unknown autosomal dominant mutation. Thirty‐four candidate genes involved in the biosynthesis of the extracellular matrix were excluded by genetic linkage analysis as possible sites of a disease‐causing mutation in this family (logarithm of odds [LOD]‐score less than −2.0).