Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Forrest et al.	1994	Am. J. Hum. Genet.	A219	55	Mutation detection in X-linked hydrocephalus

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
n.a.	Intron 10	c.1267+1G>A	p.?	Splice site	Disease-causing	Details
Fn 4	Intron 21	?	?	RNA splicing defect	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	Unknown	?	?	Intron 21	Unknown