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Article

Hispanic Infants with cystic fibrosis show low CFTR mutation detection rates in the Illinois newborn screening program.

Journal of genetic counseling - 1 Oct 2012

Watts Kimberly Danieli, Layne Benjamin, Harris Ann, McColley Susanna A

Abstract excerpt

States develop specific protocols for cystic fibrosis (CF) newborn screening to reflect the population served. We hypothesized that mutation distribution and detection rates would differ between Hispanic and non-Hispanic CF patients diagnosed by IL newborn screen with more Hispanic infants carrying mutations not detected by the state panel. Data from CF cases diagnosed via newborn screen in IL between 3/1/2008...

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Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22311127
DOI: 10.1007/s10897-012-9481-2

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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