Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Vos et al.2010To be published   

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 3Exon 8c.924C>Tp.Gly308_Glu330delRNA splicing defectDisease-causing Details
Ig 4Exon 10c.1209dupAp.Cys404MetfsX2Duplication; frameshiftDisease-causing Details
n.a.Intron 10c.1267+1G>Ap.?Splice siteDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 2 c.924C>T p.Gly308_Glu330delExon 8 Hydrocephalus, ? Both died neonatal