An exon splice enhancer mutation causes autosomal dominant GH deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 2, 2002, Pages 847-852

  Moseley, Chanda T ^a   Mullis, Primus E ^a   Prince, Melissa A ^b   Phillips III, John A ^b  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GROWTH HORMONE; GUANINE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; RNA PROCESSING; RNA SPLICING;

EID: 0036171787     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.2.8236     Document Type: Article

References (26)

1. Causes of short stature. A community study of children in Newcastle upon Tyne
2. Aetiology of idiopathic growth hormone deficiency in England and Wales
3. Prevalence of severe growth hormone deficiency
4. Familial growth hormone deficiency: A model of dominant and recessive mutations affecting a monomeric protein
5. Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency
6. Inherited defects in growth hormone synthesis and action
7. Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis
8. A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency - A clinical research center study
9. Two different 5′ splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency
10. Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients
11. A novel mechanism of aberrant pre-mRNA splicing in humans
12. Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA
13. The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element
14. Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development
15. Consensus guidelines for the diagnosis and treatment of adults with growth hormone deficiency: Summary statement of the Growth Hormone Research Society Workshop on adult growth hormone deficiency
16. The human growth hormone locus: Nucleotide sequence, biology, and evolution
17. DNA sequencing with chain-terminating inhibitors
18. A modified quantitative polymerase chain reaction assay for measuring gene-specific repair of UV photo-products in human cells
19. Human growth hormone and extracellular domain of its receptor: Crystal structure of the complex
20. The role of exon sequences in splice site selection
21. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
22. The mutational spectrum of single base-pair substitutions in messenger RNA splice junctions of human genes-causes and consequences
23. Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
24. The regulation of splice-site selection, and its role in human disease
25. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
26. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes