Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
2003 1
2008 1
2013 1
2014 1
2015 1
2019 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

PubMed for id: 1811721

8 results

Results by year

Filters applied: . Clear all
Page 1
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P, Rouault K, Chen JM, Raguénès O, Fichou Y, Hardy E, Gobin E, Pan-Petesch B, Kerbiriou M, Trouvé P, Marcorelles P, Abgrall JF, Le Maréchal C, Férec C. Guéguen P, et al. PLoS One. 2013 Sep 17;8(9):e74728. doi: 10.1371/journal.pone.0074728. eCollection 2013. PLoS One. 2013. PMID: 24069336 Free PMC article.
Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant.
Vettore S, Scandellari R, Moro S, Lombardi AM, Scapin M, Randi ML, Fabris F. Vettore S, et al. Haematologica. 2008 Nov;93(11):1743-7. doi: 10.3324/haematol.12830. Epub 2008 Sep 24. Haematologica. 2008. PMID: 18815197 Free article.