Two novel mutations of the TSH-β subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 9, 2010, Pages

  Baquedano, María Sonia ^a   Ciaccio, Marta ^a   Dujovne, Noelia ^a   Herzovich, Viviana ^a   Longueira, Yesica ^a   Warman, Diana Monica ^a   Rivarola, Marco A ^a   Belgorosky, Alicia ^a  

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYSTEINE; MESSENGER RNA; NUCLEOTIDE; THYROTROPIN BETA SUBUNIT;

ANEMIA; ARTICLE; BETA CHAIN; CASE REPORT; CODON; COMPUTER MODEL; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; EXON; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOPHYSIS; IN VITRO STUDY; INFANT; INTRON; MALE; MISSENSE MUTATION; NEWBORN SCREENING; NONSENSE MUTATION; PLACENTA; PRIORITY JOURNAL; RNA PROCESSING; RNA SPLICING; SEQUENCE ANALYSIS; AMINO ACID SUBSTITUTION; CHILD; GENETICS; LABORATORY DIAGNOSIS; MUTATION; NEWBORN; PEDIGREE; PHYSIOLOGY; PRESCHOOL CHILD; PROTEIN CONFORMATION; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARDS;

AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; FALSE NEGATIVE REACTIONS; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; THYROTROPIN, BETA SUBUNIT;

EID: 77956594145     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-0223     Document Type: Article

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