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University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
Database
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Mutations
Protein domains
References
Reference details
Author
Year
Journal
Pages
Volume
Title
Weblink
Schrander-Stumpel et al.
1990
J. Med. Genet.
688-692
27
MASA syndrome: new clinical features and linkage analysis using DNA probes
2277384
Mutations mentioned in reference
No mutations found.
Patients
Family
# Affected relatives
DNA change
Protein change
Exon/Intron
Clinical features
Remarks
1
3
c.3581C>T
p.Ser1194Leu
Exon 28
MASA syndrome
2 MASA patients, 1 HSAS patient (died at the age of 15 yrs)