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University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
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Mutations
Protein domains
References
Reference details
Author
Year
Journal
Pages
Volume
Title
Weblink
Strain et al
1994
Am J med Genet A
236-243
54(2)
Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3
8304340
Mutations mentioned in reference
No mutations found.
Patients
Family
# Affected relatives
DNA change
Protein change
Exon/Intron
Clinical features
Remarks
1
4
c.3089delA
p.Asn1030ThrfsX81
Exon 23
Hydrocephalus, ?
Death <1 yr: 3/4