Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene

A catalogue of splice junction sequences

1982 • 3,861 citations

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

1989 • 3,557 citations

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

1987 • 2,333 citations

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1993 • 692 citations

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

1988 • 636 citations

Detecting single base substitutions as heteroduplex polymorphisms

1992 • 365 citations

Retinal Degeneration in Choroideremia: Deficiency of Rab Geranylgeranyl Transferase

1993 • 325 citations

Rab geranylgeranyl transferase. A multisubunit enzyme that prenylates GTP-binding proteins terminating in Cys-X-Cys or Cys-Cys.

1992 • 323 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

A suggested nomenclature for designating mutations

1993 • 317 citations

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1993 • 297 citations

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

1992 • 296 citations

Signals for the selection of a splice site in pre-mRNA

1987 • 247 citations

Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes.

1994 • 230 citations

Deficient Geranylgeranylation of Ram/Rab27 in Choroideremia

1995 • 215 citations

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

1994 • 183 citations

Cloning and characterization of the human choroideremia gene

1994 • 158 citations

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

1989 • 96 citations

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

1992 • 93 citations

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients

1994 • 72 citations

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

1990 • 71 citations

Isolation of a candidate gene for choroideremia.

1992 • 71 citations

An autosomal homologue of the choroideremia gene colocalizes with the usher syndrome type II locus on the distal part of chromosome 1q

1992 • 70 citations

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

1992 • 61 citations

Bet2p and Mad2p are components of a prenyltransferase that adds geranylgeranyl onto Ypt1p and Sec4p

1993 • 61 citations

Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.

1985 • 58 citations

Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia

1988 • 53 citations

Mapping X-linked Ophthalmic Diseases

1985 • 52 citations

The Saccharomyces cerevisiae MSI4 gene encodes the yeast counterpart of component A of Rab geranylgeranyltransferase.

1994 • 51 citations

Report of the committee on the genetic constitution of chromosome 22

1990 • 50 citations

Identification of yeast component A: reconstitution of the geranylgeranyltransferase that modifies Ypt1p and Sec4p.

1994 • 42 citations

Mode of Inheritance in Chorioideremia

1942 • 40 citations

Identification of mutations in Danish choroideremia families

1993 • 38 citations

Deletion of the DXS165 locus in patients with classical Choroideremia

1987 • 36 citations

Hydrolink gels: a rapid and simple approach to the detection of DNA mutations in thromboembolic disease.

1992 • 34 citations

Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion

1987 • 32 citations

Choroideremia in a female.

1968 • 31 citations

CHORIOIDEREMIE ALS ERBMERKMAL

1942 • 30 citations

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

1993 • 27 citations

Choroideremia

1968 • 27 citations

Choroideremia associated with an X-autosomal translocation

1990 • 26 citations

Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus.

1987 • 24 citations

Mrs6p, the yeast homologue of the mammalian choroideraemia protein: immunological evidence for its function as the Ypt1p Rab escort protein

1994 • 24 citations

Report of the committee on the genetic constitution of chromosome 22

1989 • 20 citations

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

1989 • 20 citations

Missense mutation in the choroideremia gene

1994 • 19 citations

Cloning of the breakpoints of a deletion associated with choroideremia

1990 • 18 citations

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

1994 • 17 citations

The yeast protein Mrs6p, a homologue of the rabGDI and human choroideraemia proteins, affects cytoplasmic and mitochondrial functions

1994 • 16 citations

Haplotype and multipoint linkage analysis in Finnish choroideremia families

1989 • 14 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

Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2

1992 • 5 citations

Choroideremia

1994 • 1 citations