NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. Issue 2 (2nd February 2005)
- Record Type:
- Journal Article
- Title:
- NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. Issue 2 (2nd February 2005)
- Main Title:
- NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders
- Authors:
- Castori, M
Valente, E M
Donati, M A
Salvi, S
Fazzi, E
Procopio, E
Galluccio, T
Emma, F
Dallapiccola, B
Bertini, E - Other Names:
- group-author.
- Abstract:
- Is Part Of:
- Journal of medical genetics. Volume 42:Issue 2(2005)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 42:Issue 2(2005)
- Issue Display:
- Volume 42, Issue 2 (2005)
- Year:
- 2005
- Volume:
- 42
- Issue:
- 2
- Issue Sort Value:
- 2005-0042-0002-0000
- Page Start:
- e9
- Page End:
- e9
- Publication Date:
- 2005-02-02
- Subjects:
- JS, Joubert syndrome -- JSRD, Joubert syndrome related disorders -- MRI, magnetic resonance imaging -- MTS, molar tooth sign -- NPH, nephronophthisis
gene deletion -- Joubert syndrome -- molar tooth sign -- nephronophthisis -- NPHP1
Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.2004.027375 ↗
- 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:
- 17870.xml