Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome

Human Mutation

Volumn 16, Issue 4, 2000, Pages 323-333

  Gastier, Julie M ^a   Berg, Mary Anne ^a   Vesterhus, Per ^b   Reiter, Edward O ^c   Francke, Uta ^a,d  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b Vest Agder Central Hospital   (Norway)

^c BAYSTATE MEDICAL CENTER   (United States)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

GHIS; GHR; GHR exon 3 deletion polymorphism; Growth hormone insensitivity syndrome; Growth hormone receptor; Intragenic deletions; Laron syndrome; Molecular diagnosis

Indexed keywords

GROWTH HORMONE RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENETIC RECOMBINATION; GENETIC SCREENING; GROWTH HORMONE INSENSITIVITY SYNDROME; HORMONE RESISTANCE; HUMAN; INTRON; LARON SYNDROME; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; STOP CODON;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GROWTH DISORDERS; HUMAN; INFANT; INTRONS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; RECEPTORS, SOMATOTROPIN; SEQUENCE DELETION; SUPPORT, NON-U.S. GOV'T; SYNDROME; VARIATION (GENETICS);

EID: 0033805194     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200010)16:4<323::AID-HUMU5>3.0.CO;2-D     Document Type: Article

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