Proof of 'disease causing' mutation

Human Mutation

Volumn 12, Issue 1, 1998, Pages 1-3

  Cotton, R G H ^a   Scriver, C R ^b  

^a ST VINCENT S HOSPITAL   (Australia)

^b RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CONFORMATIONAL TRANSITION; DNA CONFORMATION; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; NOMENCLATURE; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS;

ALLELES; GENETIC DISEASES, INBORN; HUMANS; MUTATION; PHENOTYPE; TERMINOLOGY;

EID: 0031744522     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M     Document Type: Review

References (11)

1. Ad Hoc Committee on mutation nomenclature (1996) Update on nomenclature for human gene mutations. Hum Mutat 8:197
2. Antonarakis et al. (1998) Recommendations for a nomenclature system for human gene mutations and Human Mutation. Hum Mutat 11:1-3.
3. Antonarakis SE, McKusick VA (1994) Discussion on mutation nomenclature. Hum Mutat 4:166
4. Beaudet AL, Tsui L-C (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245
5. Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson E. (1996) Mutation Nomenclature: Nicknames, Systematic Names, and Unique Identifiers. Hum Mutat 8:203
6. Cooper D, Krawczak M. (1993) "Human Genome Mutation" BIOS
7. Cotton RGH (1993) Current methods of mutation detection. Mutation Research, 285:125-44
8. Cotton RGH (1997). Mutation Detection. Oxford.
9. Grompe M. (1993) The rapid detection of unknown mutations in nucleic acids. Nat Genet 5:111-17.
10. King K, Stansfield A (1990) Dictionary of Genetics 4 Ed. O.U.P. p255.
11. Vogel F, Motulsky AG (1986) Human genetics - problems and approaches, 2nd edn. Springer, Berlin