Literature DB >> 8889577

Mutation nomenclature: nicknames, systematic names, and unique identifiers.

E Beutler1, V A McKusick, A G Motulsky, C R Scriver, F Hutchinson.   

Abstract

Mesh：

Substances：

Year:  1996        PMID： 8889577     DOI： 10.1002/(SICI)1098-1004(1996)8:3<203::AID-HUMU1>3.0.CO;2-A

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


× No keyword cloud information.
  9 in total

1.  EST-derived single nucleotide polymorphism markers for assembling genetic and physical maps of the barley genome.

Authors:  R Kota; R K Varshney; M Prasad; H Zhang; N Stein; A Graner
Journal:  Funct Integr Genomics       Date:  2007-10-30       Impact factor: 3.410

2.  PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Authors:  P M Nowacki; S Byck; L Prevost; C R Scriver
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

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

Authors:  P Nowacki; S Byck; L Prevost; C R Scriver
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

4.  A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.

Authors:  T Peelen; M van Vliet; A Petrij-Bosch; R Mieremet; C Szabo; A M van den Ouweland; F Hogervorst; R Brohet; M J Ligtenberg; E Teugels; R van der Luijt; A H van der Hout; J J Gille; G Pals; I Jedema; R Olmer; I van Leeuwen; B Newman; M Plandsoen; M van der Est; G Brink; S Hageman; P J Arts; M M Bakker; P Devilee
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

5.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Authors:  E Kayaalp; E Treacy; P J Waters; S Byck; P Nowacki; C R Scriver
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

6.  Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).

Authors:  E Vafiadaki; A Cooper; L E Heptinstall; C E Hatton; M Thornley; J E Wraith
Journal:  Arch Dis Child       Date:  1998-09       Impact factor: 3.791

7.  Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers.

Authors:  Philippe E Thomas; Roman Klinger; Laura I Furlong; Martin Hofmann-Apitius; Christoph M Friedrich
Journal:  BMC Bioinformatics       Date:  2011-07-05       Impact factor: 3.169

8.  The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

Authors:  Anne Girardet; Victoria Viart; Stéphanie Plaza; Gemma Daina; Martine De Rycke; Marie Des Georges; Francesco Fiorentino; Gary Harton; Aliya Ishmukhametova; Joaquima Navarro; Caroline Raynal; Pamela Renwick; Florielle Saguet; Martin Schwarz; Sioban SenGupta; Maria Tzetis; Anne-Françoise Roux; Mireille Claustres
Journal:  Eur J Hum Genet       Date:  2015-05-27       Impact factor: 4.246

9.  Viewing Victor McKusick's legacy through the lens of his bibliography.

Authors:  Sonja A Rasmussen; Ariel Pomputius; Joanna S Amberger; Ada Hamosh
Journal:  Am J Med Genet A       Date:  2021-06-23       Impact factor: 2.802
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.