Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). Issue 5 (May 1994)
- Record Type:
- Journal Article
- Title:
- Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). Issue 5 (May 1994)
- Main Title:
- Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
- Authors:
- Uemichi, T
Gertz, M A
Benson, M D - Abstract:
- Abstract : We report studies on two German-American persons with systemic amyloidosis. Affected subjects presented with carpal tunnel syndrome in the sixth decade of life followed by peripheral neuropathy. DNA analysis of the transthyretin gene showed a new point mutation which is responsible for substitution of valine for isoleucine at position 107 of the transthyretin molecule.
- Is Part Of:
- Journal of medical genetics. Volume 31:Issue 5(1994)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 31:Issue 5(1994)
- Issue Display:
- Volume 31, Issue 5 (1994)
- Year:
- 1994
- Volume:
- 31
- Issue:
- 5
- Issue Sort Value:
- 1994-0031-0005-0000
- Page Start:
- 416
- Page End:
- 417
- Publication Date:
- 1994-05
- Subjects:
- Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.31.5.416 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 18162.xml