Evidence Against RAB40AL Being the Locus for Martin–Probst X‐Linked Deafness–Intellectual Disability Syndrome. Issue 10 (7th August 2014)
- Record Type:
- Journal Article
- Title:
- Evidence Against RAB40AL Being the Locus for Martin–Probst X‐Linked Deafness–Intellectual Disability Syndrome. Issue 10 (7th August 2014)
- Main Title:
- Evidence Against RAB40AL Being the Locus for Martin–Probst X‐Linked Deafness–Intellectual Disability Syndrome
- Authors:
- Ołdak, Monika
Ścieżyńska, Aneta
Młynarski, Wojciech
Borowiec, Maciej
Ruszkowska, Ewelina
Szulborski, Kamil
Pollak, Agnieszka
Kosińska, Joanna
Mueller‐Malesińska, Małgorzata
Stawiński, Piotr
Szaflik, Jacek P.
Płoski, Rafał - Abstract:
- <abstract abstract-type="graphical" xml:lang="en" id="humu22620-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Our data question the role of <italic>RAB40AL</italic> p.D59G mutation as a disease causing‐change and the involvement of <italic>RAB40AL</italic> in Martin‐Probst syndrome (MPS). We found the p.D59G variant by whole exome sequencing in two patients in whom the diagnosis of MPS was excluded. Screening of control DNA samples (n=810) from a general Polish population identified p.D59G with a high prevalence of 2.47% that is typical for a common genetic variation observed in asymptomatic individuals. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh1f9dbzzf" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>
- Is Part Of:
- Human mutation. Volume 35:Issue 10(2014:Oct.)
- Journal:
- Human mutation
- Issue:
- Volume 35:Issue 10(2014:Oct.)
- Issue Display:
- Volume 35, Issue 10 (2014)
- Year:
- 2014
- Volume:
- 35
- Issue:
- 10
- Issue Sort Value:
- 2014-0035-0010-0000
- Page Start:
- 1171
- Page End:
- 1174
- Publication Date:
- 2014-08-07
- Subjects:
- Human chromosome abnormalities -- Periodicals
Mutation (Biology) -- Periodicals
616.04205 - Journal URLs:
- http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004 ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1002/humu.22620 ↗
- Languages:
- English
- ISSNs:
- 1059-7794
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 4336.217000
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 2971.xml