Cloning and characterization of the human choroideremia gene

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Purification of Mouse Immunoglobulin Heavy‐Chain Messenger RNAs from Total Myeloma Tumor RNA

1980 • 2,696 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

A survey on intron and exon lengths

1988 • 569 citations

Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction.

1990 • 454 citations

Improved double-stranded DNA sequencing using the linear polymerase chain reaction

1989 • 453 citations

A strategy to reveal high-frequency RFLPs along the human X chromosome.

1984 • 361 citations

Retinal Degeneration in Choroideremia: Deficiency of Rab Geranylgeranyl Transferase

1993 • 325 citations

cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein

1993 • 322 citations

Cloning of a gene that is rearranged in patients with choroideraemia

1990 • 318 citations

Purification of component A of Rab geranylgeranyl transferase: Possible identity with the choroideremia gene product

1992 • 296 citations

The ovalbumin gene family: Hormonal control of X and Y gene transcription and mRNA accumulation

1981 • 213 citations

REP-2, a Rab escort protein encoded by the choroideremia-like gene.

1994 • 183 citations

Relationship between the total size of exons and introns in protein-coding genes of higher eukaryotes.

1982 • 114 citations

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

1989 • 96 citations

Isolation of a candidate gene for choroideremia.

1992 • 71 citations

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

1992 • 61 citations

Mode of Inheritance in Chorioideremia

1942 • 40 citations

Identification of mutations in Danish choroideremia families

1993 • 38 citations

Physical Mapping of DNA Markers in the q13-q22 Region of the Human X Chromosome

1993 • 27 citations

Choroideremia associated with an X-autosomal translocation

1990 • 26 citations

Mapping of the Choroideremia-like (CHML) Gene at 1q42-qter and Mutation Analysis in Patients with Usher Syndrome Type II

1994 • 17 citations

A new (old) deletion in the choroideremia gene

1993 • 14 citations

Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2

1994 • 7 citations

[Balanced X-autosomal translocation and mental retardation. Mapping mental retardation linked to X (excluding fragile X)].

1989 • 5 citations