Aberrant splicing of the CHM gene is a significant cause of choroideremia

[1]  D. Bentley,et al.  Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. , 1991, American journal of human genetics.

[2]  F. Cremers,et al.  Cloning of a gene that is rearranged in patients with choroideraemia , 1990, Nature.

[3]  F. Cremers,et al.  Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. , 1990, American journal of human genetics.

[4]  T. Sekiya,et al.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. , 1989, Genomics.

[5]  A. Schneider-Gädicke,et al.  ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation , 1989, Cell.

[6]  R. Nussbaum,et al.  Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. , 1989, Genomics.

[7]  A. Chapelle,et al.  Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical‐genealogical evidence , 1987, Clinical genetics.

[8]  J. Kärnä.  Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers. , 1986, Acta ophthalmologica. Supplement.

[9]  K. Mullis,et al.  Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. , 1985, Science.

[10]  M. Super.  Population Structure and Genetic Disorders , 1982 .

[11]  J. Davey,et al.  Choroideremia; clinical and genetic aspects. , 1952, The British journal of ophthalmology.