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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
Winter et al.
1989
Hum. Genet.
367-370
83
MASA syndrome: further clinical delineation and chromosomal localisation
2737668
Mutations mentioned in reference
No mutations found.
Patients
Family
# Affected relatives
DNA change
Protein change
Exon/Intron
Clinical features
Remarks
1
3
c.1792G>A
p.Asp598Asn
Exon 14
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia