The CpG dinucleotide and human genetic disease (Q28296311)

Crossref

https://api.crossref.org/works/10.1007%2FBF00278187

Tangier disease. The complete mRNA sequence encoding for preproapo-A-I.

21 January 2018

1 reference

12 December 2020

One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity

1 reference

12 December 2020

Eukaryotic DNA methylation

1 reference

12 December 2020

DNA methylation and the frequency of CpG in animal DNA.

1 reference

12 December 2020

Higher frequencies of transitions among point mutations

1 reference

12 December 2020

Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy.

1 reference

12 December 2020

Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B.

1 reference

12 December 2020

Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia

1 reference

12 December 2020

DNA polymorphism and molecular pathology of the human globin gene clusters

1 reference

12 December 2020

Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin

1 reference

12 December 2020

Eukaryotic dinucleotide preference rules and their implications for degenerate codon usage

1 reference

12 December 2020

Enzymatic synthesis of deoxyribonucleic acid. VIII. Frequencies of nearest neighbor base sequences in deoxyribonucleic acid

1 reference

12 December 2020

Long-range restriction site mapping of mammalian genomic DNA.

1 reference

12 December 2020

Non-methylated CpG-rich islands at the human alpha-globin locus: implications for evolution of the alpha-globin pseudogene

1 reference

12 December 2020

Nucleotide sequence of 16-kilobase pairs of DNA 5' to the human epsilon-globin gene.

1 reference

12 December 2020

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

12 December 2020

DNA methylation affects the formation of active chromatin

1 reference

12 December 2020

Unmethylated domains in vertebrate DNA.

1 reference

12 December 2020

Heat- and alkali-induced deamination of 5-methylcytosine and cytosine residues in DNA

1 reference

12 December 2020

DNA methylation and CpG suppression

1 reference

12 December 2020

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

12 December 2020

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

1 reference

12 December 2020

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene

1 reference

12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

12 December 2020

Diagnosis of genetic disease using recombinant DNA.

1 reference

12 December 2020

Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria

1 reference

12 December 2020

Antithrombin III tours gene: identification of a point mutation leading to an arginine----cysteine replacement in a silent deficiency.

1 reference

12 December 2020

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele

1 reference

12 December 2020

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

1 reference

12 December 2020

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1 reference

12 December 2020

Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.

1 reference

12 December 2020

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.

1 reference

12 December 2020

Molecular genetics of hemophilia A in man (factor VIII deficiency).

1 reference

12 December 2020

The distribution of the dinucleotide CpG and cytosine methylation in the vitellogenin gene family

1 reference

12 December 2020

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

1 reference

12 December 2020

A human purine nucleoside phosphorylase deficiency caused by a single base change

1 reference

12 December 2020

The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene

1 reference

12 December 2020

Diagnosis of genetic disease using recombinant DNA. Supplement

1 reference

12 December 2020

CpG islands in vertebrate genomes

1 reference

12 December 2020

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency

1 reference

12 December 2020

Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme

1 reference

12 December 2020

DNA methylation at asymmetric sites is associated with numerous transition mutations

1 reference

12 December 2020

DNA restriction fragment length polymorphisms and heterozygosity in the human genome

1 reference

12 December 2020

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

1 reference

12 December 2020

A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia

1 reference

12 December 2020

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

1 reference

12 December 2020

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

1 reference

12 December 2020

An estimate of unique DNA sequence heterozygosity in the human genome

1 reference

12 December 2020

Structure and evolution of the human genes encoding protein C and coagulation factor IX.

1 reference

12 December 2020

Three mutant insulins in man

1 reference

12 December 2020

Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis

1 reference

12 December 2020

Evolution of the primate beta-globin gene region. High rate of variation in CpG dinucleotides and in short repeated sequences between man and chimpanzee.

1 reference

12 December 2020

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

1 reference

12 December 2020

A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA

1 reference

12 December 2020

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

1 reference

12 December 2020

Methylation of DNA in developing sea urchin embryos

1 reference

12 December 2020

Use of restriction enzymes to detect potential gene sequences in mammalian DNA.

1 reference

12 December 2020

Molecular defects in a human immunoglobulin kappa chain deficiency.

1 reference

12 December 2020

CpG-rich islands and the function of DNA methylation

1 reference

12 December 2020