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

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

Mendelian Inheritance in Man

1998 • 760 citations

Cloning of a gene that is rearranged in patients with choroideraemia

1990 • 318 citations

ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation

1989 • 296 citations

Population Structure and Genetic Disorders

1982 • 231 citations

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.

1991 • 165 citations

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes

1989 • 96 citations

Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers.

1986 • 78 citations

Choroideremia : Clinical and Genetic Aspects

1952 • 72 citations

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

1990 • 71 citations

Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical‐genealogical evidence

1987 • 34 citations

Haplotype and multipoint linkage analysis in Finnish choroideremia families

1989 • 14 citations

DXS26 (HU16) is located in Xq21.1

1990 • 10 citations

Choroideremia: linkage analysis with physically mapped close DNA-markers

1991 • 7 citations