Primary GH insensitivity '(Laron syndrome) caused by a novel 4kb deletion encompassing exon 5 of the GH receptor gene: Effect of intermittent long-term treatment with recombinant human IGF-I

European Journal of Endocrinology

Volumn 150, Issue 5, 2004, Pages 635-642

  Besson, Amélie ^a   Salemi, Souzan ^a   Eblé, Andrée ^a   Joncourt, Fransiska ^a   Gallati, Sabina ^a   Jorge, Alexander A L ^b   Mullis, Primus E ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GROWTH HORMONE; GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR; IGEF; MESSENGER RNA; RECOMBINANT SOMATOMEDIN C; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C;

ANALYTICAL EQUIPMENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; DISEASE SEVERITY; DNA EXTRACTION; DRUG MECHANISM; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENETIC ANALYSIS; GROWTH RETARDATION; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE RESISTANCE; HUMAN; HUMAN TISSUE; LARON SYNDROME; LIPOHYPERTROPHY; LONG TERM CARE; MALE; MEDICAL ASSESSMENT; OUTPATIENT DEPARTMENT; PARENT; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PREPUBERTY; PRIORITY JOURNAL; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; SCHOOL CHILD; SCORING SYSTEM; SRI LANKA; STANDARD; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD DEVELOPMENT; DRUG RESISTANCE; EXONS; FOLLOW-UP STUDIES; GENE DELETION; HUMAN GROWTH HORMONE; HUMANS; INFANT; INSULIN-LIKE GROWTH FACTOR I; MALE; MOLECULAR SEQUENCE DATA; RECEPTORS, SOMATOTROPIN; RECOMBINANT PROTEINS;

EID: 2942736866     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1500635     Document Type: Article

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