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Volumn 66, Issue 5, 2007, Pages 709-713

A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; RNA;

EID: 34247895523     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.02806.x     Document Type: Article
Times cited : (12)

References (18)
  • 1
    • 33845234713 scopus 로고    scopus 로고
    • Endocrine tumor syndromes
    • In: De Groot L.J. Elsevier Saunders, Philadelphia
    • Thakker, R.V. (2006) Endocrine tumor syndromes. In : L.J. De Groot Endocrinology. Elsevier Saunders, Philadelphia, 3509 3531.
    • (2006) Endocrinology. , pp. 3509-3531
    • Thakker, R.V.1
  • 8
    • 0028293550 scopus 로고
    • A family pedigree exhibiting features of both multiple endocrine neoplasia type 1 and McCune-Albright syndromes
    • O'Halloran, D.J. Shalet, S.M. (1994) A family pedigree exhibiting features of both multiple endocrine neoplasia type 1 and McCune-Albright syndromes. Journal of Clinical Endocrinology and Metabolism, 78, 523 525.
    • (1994) Journal of Clinical Endocrinology and Metabolism , vol.78 , pp. 523-525
    • O'Halloran, D.J.1    Shalet, S.M.2
  • 12
    • 0026865130 scopus 로고
    • A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
    • Parkinson, D.B. Thakker, R.V. (1992) A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nature Genetics, 1, 149 152.
    • (1992) Nature Genetics , vol.1 , pp. 149-152
    • Parkinson, D.B.1    Thakker, R.V.2
  • 14
    • 1942467065 scopus 로고    scopus 로고
    • Genomic variants in exons and introns: Identifying the splicing spoilers
    • Pagani, F. Baralle, F.E. (2004) Genomic variants in exons and introns: identifying the splicing spoilers. Nature Reviews Genetics, 5, 389 396.
    • (2004) Nature Reviews Genetics , vol.5 , pp. 389-396
    • Pagani, F.1    Baralle, F.E.2
  • 15
    • 26944453614 scopus 로고    scopus 로고
    • Splicing in action: Assessing disease causing sequence changes
    • Baralle, D. Baralle, M. (2005) Splicing in action: assessing disease causing sequence changes. Journal of Medical Genetics, 42, 737 748.
    • (2005) Journal of Medical Genetics , vol.42 , pp. 737-748
    • Baralle, D.1    Baralle, M.2
  • 16
    • 33644937809 scopus 로고    scopus 로고
    • Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism
    • Bradley, K.J., Cavaco, B.M., Bowl, M.R., Harding, B., Young, A. Thakker, R.V. (2005) Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism. Journal of Medical Genetics, 42, e51.
    • (2005) Journal of Medical Genetics , vol.42
    • Bradley, K.J.1    Cavaco, B.M.2    Bowl, M.R.3    Harding, B.4    Young, A.5    Thakker, R.V.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.