The molecular genetics of human monogenic diseases.

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The molecular genetics of human monogenic diseases.

Abstract

References

Evolution of sickle variant gene

Co-transfer of human X-linked markers into murine somatic cells via isolated metaphase chromosomes

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

Measurement and purification of human chromosomes by flow cytometry and sorting

Precise localization of human beta-globin gene complex on chromosome 11

Assignment of human beta-, gamma-, and delta-globin genes to the short arm of chromosome 11 by chromosome sorting and DNA restriction enzyme analysis

Partial purification and characterization of DNA from the human X chromosome

Insertion of synthetic copies of human globin genes into bacterial plasmids

Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis

Method for detection of specific RNAs in agarose gels by transfer to diazobenzyloxymethyl-paper and hybridization with DNA probes

DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man.

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

The isolation of structural genes from libraries of eucaryotic DNA

An efficient mRNA-dependent translation system from reticulocyte lysates

Chromosome measurement and sorting by flow systems

Detection of specific sequences among DNA fragments separated by gel electrophoresis

Human Y-chromosome-specific reiterated DNA

Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis.

Molecular genetics of the human X chromosome.

Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene

Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy

Chiasma distribution at diakinesis in the normal human male

Formation and detection of RNA-DNA hybrid molecules in cytological preparations

Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion

Rabbit haemoglobin synthesis in frog cells: the translation of reticulocyte 9 s RNA in frog oocytes

Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes

Chromosomal and nuclear location of mouse satellite DNA in individual cells

Chromosomal localization of mouse satellite DNA

Progress in mapping human autosomes

RNA-DNA hybrids at the cytological level

Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences

Isolation and characterization of human random cDNA clones homologous to DNA from the X chromosome

Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method

Recombinant DNA technology and genetic control of pest insects

Antenatal diagnosis of sickle cell anaemia by direct analysis of the sickle mutation

Poly(A)-containing messenger ribonucleoprotein complexes from sea urchin eggs and embryos: polypeptides associated with native and UV-crosslinked mRNPs

Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency)

The occurrence of families of repetitive sequences in a library of cloned cDNA from human lymphocytes

Chromosomal localization of a single copy gene by in situ hybridization--human beta globin genes on the short arm of chromosome 11

Chiasma frequency and distribution in a sample of human males: chromosomes 1, 2, and 9

A sensitive new prenatal test for sickle-cell anemia

Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis

Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes

Huntington's disease: genetically programmed cell death in the human central nervous system

Efficient isolation of genes by using antibody probes

Direct identification of sickle cell anemia by blot hybridization

Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster

Directed mutagenesis

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

Use of restriction endonucleases for mapping the allele for beta s-globin

Citations

New techniques in molecular genetics

An intestinal Eimeria infection in juvenile Asian seabass (Lates calcarifer) cultured in Vietnam--a first report

First report of Calyptospora sp. (Apicomplexa, Calyptosporidae) in forage characid fish from the Três Marias Reservoir, São Francisco Basin, Brazil

Molecular genetics of the human X chromosome.

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