Disease-causing mutations in the human genome

European Journal of Pediatrics, Supplement

Volumn 159, Issue 3, 2000, Pages S173-S178

  Antonarakis, S E ^a   Krawczak, M ^a   Cooper, D N ^a  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

Databases; Deletions; Gene mutations; Insertions; Substitutions

Indexed keywords

ALANINE; CYSTEINE; CYTOSINE DERIVATIVE; GLYCINE; THREONINE;

AMINO ACID SUBSTITUTION; CONFERENCE PAPER; DATA BASE; GENE DELETION; GENE INSERTION; GENE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

5-METHYLCYTOSINE; CYTOSINE; DATABASES, FACTUAL; DNA; GENE DELETION; GENOME, HUMAN; HUMANS; MUTATION;

EID: 0034434584     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: 10.1007/pl00014395     Document Type: Article

References (25)

1. Molecular etiology of factor VIII deficiency in hemophilia A
2. OMIM passes the 1,000-disease-gene mark
3. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
4. DNA methylation and the frequency of CpG in animal DNA
5. Eukaryotic DNA methylation
6. The nature and mechanisms of human gene mutation
7. Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations
8. The structure and evolution of the human beta-globin gene family
9. The incidence and distribution of CpG > TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots
10. Online Mendelian inheritance in man (OMIM)
11. Molecular characterization of mild-to-moderate hemophilia A: Detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis
12. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene
13. p53 mutations in human cancers
14. Germ-line origins of mutation in families with hemophilia B: The sex ratio varies with the type of mutation
15. Mutations causing hemophilia B: Direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene
16. The human gene mutation database
17. Somatic spectrum of cancer-associated single base pair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection
18. Neighboring-nucleotide effects on the rates of germ-line single base pair substitution in human genes
19. Temporal and regional changes in DNA methylation in the embryonic, extra-embryonic and germ cell lineages during mouse embryo development
20. 5-Methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes
21. Frameshift mutations and the genetic code
22. Complete and tissue-independent methylation of CpG sites in the p53 gene: Implications for mutations in human cancers
23. Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots
24. Nonsense and missense mutations in hemophilia A: Estimate of the relative mutation rate at CG dinucleotides