Literature DB >> 10777364

A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients.

J Wang, M C Bowman, E Hsu, K Wertz, L J Wong.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 10777364      PMCID： PMC1734535          DOI： 10.1136/jmg.37.3.215

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  5 in total

1.  Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

Authors:  Iris Schrijver; Sudha Ramalingam; Ramalingam Sankaran; Steve Swanson; Charles L M Dunlop; Steven Keiles; Richard B Moss; John Oehlert; Phyllis Gardner; E Robert Wassman; Anja Kammesheidt
Journal:  J Mol Diagn       Date:  2005-05       Impact factor: 5.568

2.  Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.

Authors:  Iris Schrijver; Krista Rappahahn; Lynn Pique; Martin Kharrazi; Lee-Jun Wong
Journal:  J Mol Diagn       Date:  2008-06-13       Impact factor: 5.568

3.  Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

Authors:  Iris Schrijver; Eneli Oitmaa; Andres Metspalu; Phyllis Gardner
Journal:  J Mol Diagn       Date:  2005-08       Impact factor: 5.568

4.  Cystic fibrosis in a Hispanic adolescent.

Authors:  Jenny H Lin; Joseph M Collaco; Shruti M Paranjape
Journal:  Pediatr Pulmonol       Date:  2013-02-08

5.  Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients.

Authors:  Hani K Fanous; Silvia Delgado-Villata; Reka Kovacs; Eglal Shalaby-Rana; Iman Sami-Zakahri
Journal:  Children (Basel)       Date:  2018-07-03
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.