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Journal article

Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.

Abstract:

MEN1 is an autosomal dominant disorder characterized by parathyroid, pituitary, and pancreatic tumors. The MEN1 gene is located on chromosome 11q13 and encodes a 610-amino acid protein. MEN1 mutations are of diverse types and are scattered throughout the coding region, such that almost every MEN1 family will have its individual mutation. To further characterize such mutations we ascertained 34 unrelated MEN1 probands and undertook DNA sequence analysis. This identified 17 different mutations ...

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Publication status:
Published

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Publisher copy:
10.1210/jc.87.6.2688

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Journal:
Journal of clinical endocrinology and metabolism
Volume:
87
Issue:
6
Pages:
2688-2693
Publication date:
2002-06-01
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
Source identifiers:
6010
Language:
English
Keywords:
Pubs id:
pubs:6010
UUID:
uuid:c7e65661-1d96-469a-8c39-f21ed90bb40a
Local pid:
pubs:6010
Deposit date:
2012-12-19

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