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Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.

Abstract:

Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general population. Here, we report the results of a screen for germline LKB1 mutations by DNA sequencing in 12 Peutz-Jeghers patients (three sporadic and nine familial cases). Mutations we...

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Journal:
Journal of medical genetics More from this journal
Volume:
36
Issue:
5
Pages:
365-368
Publication date:
1999-05-01
EISSN:
1468-6244
ISSN:
0022-2593
Language:
English
Keywords:
Pubs id:
pubs:72173
UUID:
uuid:0ac37c6e-5cee-48ec-b356-8959fa0fa4ba
Local pid:
pubs:72173
Source identifiers:
72173
Deposit date:
2012-12-19

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