Literature DB >> 16268489

First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis.

Eduardo F Tizzano1, Adoracioń Venceslá, Manel Baena, Mónica Cornet, María T Calvo, José F Lucía, Rosario Pérez Garrido, Ramiro Núñez, Montserrat Baiget.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 16268489     DOI： 10.1160/TH05-03-0675

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN： 0340-6245            Impact factor:   5.249


× No keyword cloud information.
  2 in total

1.  Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.

Authors:  Lyndon G Rosser; Shane McKee; David S Millar; Hayley Archer; James Hughes; Rachel Butler; Nadia Chuzhanova; David N Cooper; Lazarus P Lazarou
Journal:  Genomic Med       Date:  2008-09-20

2.  Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Authors:  Lorenzo Ferri; Maria A Donati; Silvia Funghini; Catia Cavicchi; Viviana Pensato; Cinzia Gellera; Federica Natacci; Luigina Spaccini; Serena Gasperini; Frédéric M Vaz; David N Cooper; Renzo Guerrini; Amelia Morrone
Journal:  Eur J Hum Genet       Date:  2015-03-18       Impact factor: 4.246
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.