Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene

Clinical Endocrinology

Volumn 54, Issue 5, 2001, Pages 681-687

  Salvatori, Roberto ^a   Fan, Xiaoguang ^a   Phillips III, John A ^b   Prince, Melissa ^b   Levine, Michael A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYCLIC AMP; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR; HISTIDINE; LEUCINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHO CELL; CODING; CODON; CONTROLLED STUDY; DNA TRANSFECTION; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HORMONAL THERAPY; HORMONE RELEASE; HORMONE RESPONSE; HUMAN; INTRON; MALE; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; SIBLING; SITE DIRECTED MUTAGENESIS; WILD TYPE;

ANIMALS; CHILD; CHILD, PRESCHOOL; CHO CELLS; CRICETINAE; CYCLIC AMP; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GROWTH HORMONE; GROWTH HORMONE-RELEASING HORMONE; HETEROZYGOTE; HUMANS; MALE; MUTATION; RECEPTORS, NEUROPEPTIDE; RECEPTORS, PITUITARY HORMONE-REGULATING HORMONE; TRANSFECTION;

EID: 0035726151     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2001.01273.x     Document Type: Article

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