Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency

Clinical Endocrinology

Volumn 76, Issue 3, 2012, Pages 387-393

  Turton, J P ^a,d   Strom, M ^a   Langham, S ^b   Dattani, M T ^c   Le Tissier, P ^a  

^a NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GROWTH HORMONE; HYDROCORTISONE; HYPOPHYSIS HORMONE; MESSENGER RNA; PROLACTIN; SOMATOMEDIN C; THYROXINE; TRANSCRIPTION FACTOR PIT 1; TRYPTOPHAN;

ALLELE; AMINO ACID SUBSTITUTION; ANTERIOR PITUITARY HYPOPLASIA; ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; COMBINED PITUITARY HORMONE DEFICIENCY; DNA SEQUENCE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HETEROZYGOSITY; HORMONE DEFICIENCY; HUMAN; HYPOPLASIA; HYPOTHYROIDISM; LABORATORY TEST; LEARNING DISORDER; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN STABILITY; SCHOOL CHILD; SHORT STATURE;

BASE SEQUENCE; BLOTTING, WESTERN; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HEK293 CELLS; HUMAN GROWTH HORMONE; HUMANS; HYPOPITUITARISM; HYPOTHYROIDISM; MALE; MUTATION; PEDIGREE; PITUITARY HORMONES; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR PIT-1;

EID: 84856994684     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04236.x     Document Type: Article

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