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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

Authors


Turner, JJ More by this author
Leotlela, PD More by this author
Pannett, AA More by this author
Forbes, SA More by this author
Bassett, JH More by this author
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Journal:
The Journal of clinical endocrinology and metabolism
Volume:
87
Issue:
6
Pages:
2688-2693
Publication date:
2002-06-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:c7e65661-1d96-469a-8c39-f21ed90bb40a
Source identifiers:
6010
Local pid:
pubs:6010

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