Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome
โ Scribed by Andreas Gal; Christine Stolzenberger; Thomas Wienker; Peter Wieacker; Hans-Hilger Ropers; Ursula Friedrich; Liesbeth Bleeker-Wagemakers; Peter Pearson; Mette Warburg
- Book ID
- 115089179
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 115 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0009-9163
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Norrie disease (ND) is an X-linked recessive disorder with congenital blindness (atrophia bulborum hereditaria, pseudoglioma). Six kindreds segregating for ND were studied for linkage with polymorphic markers of the human X chromosome. No recombination was observed between the ND-locus (NDP) and the
A large Danish pedigree segregating for X-linked retinitis pigmentosa (RPX) (Warburg and Simonsen 1968) was restudied for linkage analysis. Using two markers, i.e. the DNA base sequence polymorphism presented by the probe L1.28 defining the chromosomal segment DXS7, and the C-banding heteromorphism