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Literature DB >> 8401532

A suggested nomenclature for designating mutations.

A L Beaudet¹, L C Tsui.

Abstract

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Year: 1993 PMID： 8401532 DOI： 10.1002/humu.1380020402

Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878

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58 in total

1. Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

Authors: M Milone; H L Wang; K Ohno; T Fukudome; J N Pruitt; N Bren; S M Sine; A G Engel
Journal: J Neurosci Date: 1997-08-01 Impact factor: 6.167

2. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Authors: V Abkevich; A Zharkikh; A M Deffenbaugh; D Frank; Y Chen; D Shattuck; M H Skolnick; A Gutin; S V Tavtigian
Journal: J Med Genet Date: 2004-07 Impact factor: 6.318

Review 3. Human genotype-phenotype databases: aims, challenges and opportunities.

Authors: Anthony J Brookes; Peter N Robinson
Journal: Nat Rev Genet Date: 2015-11-10 Impact factor: 53.242

4. Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites.

Authors: F Durocher; P Tonin; D Shattuck-Eidens; M Skolnick; S A Narod; J Simard
Journal: J Med Genet Date: 1996-10 Impact factor: 6.318

5. An analysis of unclassified missense substitutions in human BRCA1.

Authors: Sean V Tavtigian; Paul B Samollow; Deepika de Silva; Alun Thomas
Journal: Fam Cancer Date: 2006 Impact factor: 2.375

6. An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation.

Authors: D Bodmer; M J Eleveld; M J Ligtenberg; M A Weterman; B A Janssen; D F Smeets; P E de Wit; A van den Berg; E van den Berg; M I Koolen; A Geurts van Kessel
Journal: Am J Hum Genet Date: 1998-06 Impact factor: 11.025

A suggested nomenclature for designating mutations.

1. Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

2. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Review 3. Human genotype-phenotype databases: aims, challenges and opportunities.

4. Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites.

5. An analysis of unclassified missense substitutions in human BRCA1.

6. An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation.

7. Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

8. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

9. The PAH mutation analysis consortium database: update 1996.

10. Pyrimidine base damage is increased in women with BRCA mutations.