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The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene...

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_72391143

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

About this item

Full title

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Publisher

New York: Nature Publishing Group US

Journal title

Nature genetics, 2000-11, Vol.26 (3), p.324-327

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired scotopic vision with associated ocular symptoms such as myopia, hyperopia, nystagmus and reduced visual acuity
1
. Genetic mapping in families with XLCSNB revealed two different loci on the proximal short arm of the X chromosome
2
. These two genetic su...

Alternative Titles

Full title

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_72391143

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_72391143

Other Identifiers

ISSN

1061-4036

E-ISSN

1546-1718

DOI

10.1038/81627

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