Mutation Distribution in Expanded Screening for Cystic Fibrosis: Making Up the Balance in a Context of Ethnic Diversity-Reference-Cited by-同舟云学术

Mutation Distribution in Expanded Screening for Cystic Fibrosis: Making Up the Balance in a Context of Ethnic Diversity

Published:2011-06-01 Issue:6 Volume:57 Page:799-801
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Schrijver Iris¹

Affiliation:

1. Department of Pathology, Stanford University School of Medicine, Stanford, CA

Publisher

Oxford University Press (OUP)

Subject

Biochemistry, medical,Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/57/6/799/32657404/clinchem0799.pdf

Reference16 articles.

1. Cystic Fibrosis Foundation. Patient registry report. http://www.cff.org/research/ClinicalResearch/PatientRegistryReport (Accessed March 2011).

2. Genotype and phenotype in cystic fibrosis;Zielenski;Respiration,2000

3. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population;Abeliovich;Am J Hum Genet,1992

4. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening;Grody;Genet Med,2001

5. Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population;Palomaki;Genet Med,2004

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