Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

Human Mutation

Volumn 21, Issue 4, 2003, Pages 424-440

  Millar, David S ^a   Lewis, Mark D ^a   Horan, Martin ^a   Newsway, Vicky ^a   Easter, Tammy E ^a   Gregory, John W ^a   Fryklund, Linda ^b   Norin, Martin ^c   Crowne, Elizabeth C ^d   Davies, Sally J ^a   Edwards, Phillip ^e   Kirk, Jeremy ^f   Waldron, Kim ^f   Smith, Patricia J ^g   Phillips III, John A ^h   Scanlon, Maurice F ^a   Krawczak, Michael ⁱ   Cooper, David N ^a   Procter, Annie M ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b PFIZER INC   (United States)

^c BIOVITRUM AB   (Sweden)

^d BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^e PRINCESS OF WALES HOSPITAL   (United Kingdom)

^f BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^g UNIVERSITY HOSPITAL OF NORTH STAFFORDSHIRE   (United Kingdom)

^h VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF KIEL   (Germany)

Author keywords

Functional polymorphism; Gene conversion; GH secretion; GH1; Growth hormone; Growth hormone deficiency; Haplotypes; IGHD; Mutation prevalence; Promoter; Short stature; Signal transduction

Indexed keywords

GROWTH HORMONE; JANUS KINASE; SIGNAL PEPTIDE; STAT PROTEIN;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE AGE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE; GENE CONVERSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH HORMONE 1 GENE; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE RELEASE; HAPLOTYPE; HUMAN; HYPOPHYSIS CELL; IDIOPATHIC DISEASE; MISSENSE MUTATION; MOLECULAR MODEL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; RAT; REPORTER GENE; SHORT STATURE; SIGNAL TRANSDUCTION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; GROWTH DISORDERS; HAPLOTYPES; HUMAN GROWTH HORMONE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PATIENT SELECTION; PHENOTYPE; PROMOTER REGIONS (GENETICS); RNA SPLICING; RNA, MESSENGER; VARIATION (GENETICS);

EID: 0037243203     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10168     Document Type: Article

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