Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

Dystrophin: The protein product of the duchenne muscular dystrophy locus

1987 • 4,477 citations

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1987 • 2,353 citations

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1988 • 1,501 citations

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1988 • 1,140 citations

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

1984 • 411 citations

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implications for X-Y interchange

1987 • 272 citations

Duchenne muscular dystrophy

1988 • 203 citations

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

1987 • 201 citations

Germline mosaicism and Duchenne muscular dystrophy mutations

1987 • 199 citations

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

1985 • 198 citations

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

1984 • 198 citations

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1987 • 192 citations

Hemophilia A

1985 • 189 citations

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

1988 • 178 citations

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

1987 • 143 citations

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1987 • 133 citations

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

1987 • 123 citations

Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis.

1987 • 117 citations

A deletion hot spot in the Duchenne muscular dystrophy gene

1988 • 114 citations

Characterization of five partial deletions of the factor VIII gene.

1987 • 103 citations

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

1987 • 93 citations

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophy in cDNA

1988 • 76 citations

Prenatal Diagnosis and Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy

1987 • 75 citations

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency)

1987 • 72 citations

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: Isolation and use of J66 (DXS268), a distal intragenic marker

1987 • 65 citations

Germinal mosaicism in Duchenne muscular dystrophy

1988 • 56 citations

EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHY

1987 • 53 citations

Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients.

1987 • 42 citations

Familial inheritance of a DXS164 deletion mutation from a heterozygous female.

1987 • 30 citations

Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families

1986 • 21 citations

Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5′ end of the gene

1987 • 19 citations

Mapping the disease phenotype

1987 • 15 citations

On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms.

1986 • 14 citations

Origin of new mutations in Duchenne muscular dystrophy

1986 • 9 citations

Toward a molecular understanding of ornithine transcarbamylase deficiency.

1988 • 9 citations