Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.
Open Access
- 1 July 1994
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (7) , 580-582
- https://doi.org/10.1136/jmg.31.7.580
Abstract
The gene for complete congenital stationary night blindness (CSNB1) has been assigned to the Xp11.3 region. However, little evidence has been provided for the assignment of the incomplete congenital stationary night blindness gene (CSNB2). Here we present the clinical and molecular data from a CSNB2 family which show a key recombinant assigning the CSNB2 gene proximal to MAOB.Keywords
This publication has 16 references indexed in Scilit:
- Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.Journal of Medical Genetics, 1993
- Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloningCytogenetic and Genome Research, 1993
- Linkage analysis in X-linked congenital stationary night blindnessGenomics, 1992
- Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7Genomics, 1992
- Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls typeHuman Genetics, 1991
- Åland eye disease: Linkage dataGenomics, 1991
- Report of the committee on the genetic constitution of the X chromosome (Part 1 of 7)Cytogenetic and Genome Research, 1991
- A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosomeHuman Genetics, 1990
- Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3Genomics, 1989
- Beitrag zur Analyse des menschlichen ElektroretinogrammsOphthalmologica, 1952