X-inactivation pattern in carriers of X-linked retinitis pigmentosa: A valuable means of prognostic evaluation?
✍ Scribed by Ursula Friedrich; Mette Warburg; Arne Lund Jørgensen
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 610 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0340-6717
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X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is a syndromic form of X-linked mental retardation. We investigated the X-inactivation status of nine female ATR-X carriers by methylation-specific PCR of the HUMARA gene. Six carriers demonstrated a skewed X-inactivation pattern (>90:10
X-linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2, being mutated in approximately 70% and 10% of the XLRP patients. Clinically there is no clearly signifi
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X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease with a block in differentiation from pre-B to B cells resulting in a selective defect in the humoral immune response. Affected males have very low concentrations of serum immunoglobulins leading predominantly to recurrent bac