Literature DB >> 1504612

CEPH maps.

H M Cann1.   

Abstract

There are CEPH genetic maps on each homologous human chromosome pair. Genotypes for these maps have been generated in 88 laboratories that receive DNA from a reference panel of large nuclear pedigrees/families supplied by the Centre d'Etude du Polymorphisme Humain. These maps serve as useful tools for the localization of both disease genes and other genes of interest.

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Year:  1992        PMID： 1504612     DOI： 10.1016/s0959-437x(05)80148-0

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN： 0959-437X            Impact factor:   5.578


  4 in total

Review 1.  Pharmacogenomic discovery using cell-based models.

Authors:  Marleen Welsh; Lara Mangravite; Marisa Wong Medina; Kelan Tantisira; Wei Zhang; R Stephanie Huang; Howard McLeod; M Eileen Dolan
Journal:  Pharmacol Rev       Date:  2009-12       Impact factor: 25.468

2.  Widespread RNA and DNA sequence differences in the human transcriptome.

Authors:  Mingyao Li; Isabel X Wang; Yun Li; Alan Bruzel; Allison L Richards; Jonathan M Toung; Vivian G Cheung
Journal:  Science       Date:  2011-05-19       Impact factor: 47.728

3.  Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.

Authors:  Laure Gineau; Céline Cognet; Nihan Kara; Francis Peter Lach; Jean Dunne; Uma Veturi; Capucine Picard; Céline Trouillet; Céline Eidenschenk; Said Aoufouchi; Alexandre Alcaïs; Owen Smith; Frédéric Geissmann; Conleth Feighery; Laurent Abel; Agata Smogorzewska; Bruce Stillman; Eric Vivier; Jean-Laurent Casanova; Emmanuelle Jouanguy
Journal:  J Clin Invest       Date:  2012-02-22       Impact factor: 14.808

4.  A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

Authors:  Xiao-Fei Kong; Aziz Bousfiha; Abdelfettah Rouissi; Yuval Itan; Avinash Abhyankar; Vanessa Bryant; Satoshi Okada; Fatima Ailal; Jacinta Bustamante; Jean-Laurent Casanova; Jennifer Hirst; Stéphanie Boisson-Dupuis
Journal:  PLoS One       Date:  2013-03-05       Impact factor: 3.240
  4 in total

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