E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: A probable common mediterranean ancestor

Journal of Pediatric Endocrinology and Metabolism

Volumn 21, Issue 12, 2008, Pages 1119-1127

  Espinosa, Claudia ^a   Sjoberg, Marcela ^a   Salazar, Teresa ^b   Rodriguez, Adrian ^a   Cassorla, Fernando G ^b   Mericq, M Veronica ^b   Carvallo, Pilar ^a  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^b UNIVERSITY OF CHILE   (Chile)

Author keywords

Dwarfism; Gene mutations; Growth hormone insensitivity; Growth hormone receptor

Indexed keywords

CLONIDINE; GONADORELIN AGONIST; GROWTH HORMONE; GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR; LEUPRORELIN; PROTEIN E180; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY HEIGHT; CHILE; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; EXON; FEMALE; GENE MUTATION; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE INSENSITIVITY; HAPLOTYPE; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; PLESIOMORPHY; PROTEIN BLOOD LEVEL; SEQUENCE ANALYSIS; SHORT STATURE; SPLICE MUTATION;

EID: 58149516313     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2008.21.12.1119     Document Type: Article

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