Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Vos et al.	2010	To be published

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details
Ig 3	Exon 8	c.924C>T	p.Gly308_Glu330del	RNA splicing defect	Disease-causing	Details
Ig 4	Exon 10	c.1209dupA	p.Cys404MetfsX2	Duplication; frameshift	Disease-causing	Details
n.a.	Intron 10	c.1267+1G>A	p.?	Splice site	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	2	c.924C>T	p.Gly308_Glu330del	Exon 8	Hydrocephalus, ?	Both died neonatal