A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency

European Journal of Endocrinology

Volumn 148, Issue 1, 2003, Pages 25-30

  Carakushansky, Mauri ^c   Whatmore, Andrew J ^a   Clayton, Peter E ^a   Shalet, Stephen M ^b   Gleeson, Helena K ^b   Price, David A ^a   Levine, Micheal A ^c   Salvatori, Roberto ^c  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b CHRISTIE HOSPITAL   (United Kingdom)

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

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; COMPLEMENTARY DNA; CYCLIC AMP; EPITOPE; GENOMIC DNA; GROWTH HORMONE RELEASING FACTOR; GROWTH HORMONE RELEASING FACTOR RECEPTOR; VALINE;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL MEMBRANE; CELL SURFACE; CHILD; CHO CELL; CODON; CONSANGUINITY; FAMILIAL DISEASE; FAMILY; FATHER; GEL ELECTROPHORESIS; GENE EXPRESSION; GENE INSERTION; GENE SEQUENCE; GENETIC TRANSFECTION; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE RESISTANCE; HUMAN; MALE; MISSENSE MUTATION; MOTHER; MUTANT; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE; WILD TYPE;

CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE EXPRESSION; HUMAN GROWTH HORMONE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, NEUROPEPTIDE; RECEPTORS, PITUITARY HORMONE-REGULATING HORMONE; SIBLINGS;

EID: 0037266277     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1480025     Document Type: Article

References (22)

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