Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively

Hum Mutat. 1997;9(1):53-6. doi: 10.1002/(SICI)1098-1004(1997)9:1<53::AID-HUMU9>3.0.CO;2-Q.

Authors

J L Walker¹, J Dixon, C R Fenton, J Hungerford, S A Lynch, S A Stenhouses, A Christian, I W Craig

Affiliation

¹ Department of Biochemistry, University of Oxford, U.K.

PMID: 8990009
DOI: 10.1002/(SICI)1098-1004(1997)9:1<53::AID-HUMU9>3.0.CO;2-Q

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Blindness / genetics
Exons*
Eye Abnormalities / genetics*
Eye Proteins / genetics*
Female
Humans
Infant
Male
Mutation*
Nerve Tissue Proteins / genetics*
Pedigree
Phenotype

Substances

Eye Proteins
NDP protein, human
Nerve Tissue Proteins