Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany

Hormone Research

Volumn 66, Issue 2, 2006, Pages 96-100

  Lanzerath, Kirsten ^a   Bettendorf, Markus ^a   Haag, Christine ^b   Kneppo, Caroline ^a   Schulze, Egbert ^b   Grulich Henn, Jürgen ^a,c  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b Laboratory for Molecular Genetics   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

Congenital hypothyroidism; Germany, incidence; Pax8 gene mutations

Indexed keywords

DNA; ISOLEUCINE; NUCLEOTIDE; THREONINE; TRANSCRIPTION FACTOR PAX8; VALINE;

ALLELE; ARTICLE; CODON; COHORT ANALYSIS; COMPARATIVE STUDY; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GERMANY; HETEROZYGOSITY; HUMAN; HYPOPLASIA; INCIDENCE; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; PATHOGENESIS; PENETRANCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; THYROID DISEASE; THYROID GLAND;

ADULT; COHORT STUDIES; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; GERMANY, WEST; HUMANS; INFANT, NEWBORN; INTRONS; MALE; PAIRED BOX TRANSCRIPTION FACTORS; POLYMORPHISM, GENETIC;

EID: 33746344300     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000093799     Document Type: Article

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