TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency

European Journal of Endocrinology

Volumn 151, Issue 4, 2004, Pages 463-465

  Metherell, L A ^a   Savage, M O ^a   Dattani, M ^b   Walker, J ^c   Clayton, P E ^d   Farooqi, I S ^e   Clark, A J L ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

^d ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CORTICOTROPIN; GENOMIC DNA; METHIONINE; NUCLEOTIDE; T BOX TRANSCRIPTION FACTOR;

ARTICLE; AUTOANALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORTICOTROPIN DEFICIENCY; DNA BINDING; DNA EXTRACTION; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DISRUPTION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; INTRON; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STRUCTURE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

ADRENOCORTICOTROPIC HORMONE; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; HYDROCORTISONE; HYPOPITUITARISM; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; SIBLINGS; TRANSCRIPTION FACTORS;

EID: 7244257410     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1510463     Document Type: Article

References (11)

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