Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen

Journal of Molecular Diagnostics

Volumn 8, Issue 1, 2006, Pages 137-140

  LaMarche Heaney, Denise ^a   Flume, Patrick ^a   Hamilton, Lauren ^b   Lyon, Elaine ^c   Wolff, Daynna J ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b Charleston OB/GYN   (United States)

^c ARUP LABORATORIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CHLORIDE; GLYCINE; MUTANT PROTEIN; OLIGONUCLEOTIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CAUCASIAN; CLINICAL FEATURE; COUGHING; CYSTIC FIBROSIS; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYBRIDIZATION; LUNG DISEASE; LUNG FUNCTION TEST; MALABSORPTION; MUTATIONAL ANALYSIS; PANCREAS INSUFFICIENCY; PHYSICAL EXAMINATION; PROTEIN DETERMINATION; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SIBLING; SWEAT GLAND DISEASE; SYMPTOMATOLOGY; THORAX RADIOGRAPHY; WILD TYPE;

EID: 32944461247     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2006.050065     Document Type: Article

References (20)

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