Abstract:
:Human single gene disorders that affect the nervous system provide a host of natural mutations that can be deployed in the quest to understand its development and function. A paradigm for this approach is the study of disorders caused by mutations in the gene for the neural cell recognition molecule L1. L1 is the founder member of a subfamily of cell adhesion molecules that are primarily expressed in the nervous system, and to date it is the only one to be associated with a hereditary disease. In this review we will summarize how the analysis of pathological mutations in L1 is complementing the study of mouse models and in vitro analysis of L1 function.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Kenwrick S,Watkins A,De Angelis Edoi
10.1093/hmg/9.6.879subject
Has Abstractpub_date
2000-04-12 00:00:00pages
879-86issue
6eissn
0964-6906issn
1460-2083pii
ddd114journal_volume
9pub_type
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