Create a free QxMD account to receive personalized paper recommendations, relevant to your practice.

LETTER

Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome

Kaori Sakai, Masashi Akiyama, Tomoyuki Watanabe, Kazunori Sanayama, Katsuo Sugita, Mari Takahashi, Keisuke Suehiro, Kazuhiko Yorifuji, Akihiko Shibaki, Hiroshi Shimizu

Journal of Investigative Dermatology 2006, 126 (11): 2545-7

No abstract text is available yet for this article.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome. Akihiko Shibaki, Masashi Akiyama, Hiroshi Shimizu Journal of Investigative Dermatology 2004, 123 (6): 1197-9

An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation. Kaori Sakai, Masashi Akiyama, Teruki Yanagi, Sheela Nampoothiri, Tony Mampilly, V Sunitha, Hiroshi Shimizu International Journal of Dermatology 2010, 49 (9): 1031-3

Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene. M P Auada, M B Puzzi, M L Cintra, C E Steiner, F Alexandrino, E L Sartorato, T S Aguiar, R D Azulay, G Carney, W B Rizzo British Journal of Dermatology 2006, 154 (4): 770-3

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. Biagio Didona, Andrea Codispoti, Enrico Bertini, William B Rizzo, Gael Carney, Giovanna Zambruno, Carlo Dionisi-Vici, Mauro Paradisi, Cristina Pedicelli, Gerry Melino, Alessandro Terrinoni Journal of Human Genetics 2007, 52 (10): 865-70

Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation. Uluç Yiş, Allesandro Terrinoni Turkish Journal of Pediatrics 2012, 54 (1): 64-6

Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene. Joana Maria Botelho Gomes, Ana Paula Vieira, Jorge Navarro, Ricardo Maré, Purificação Tavares, Celeste Brito European Journal of Dermatology: EJD 2011, 21 (3): 412-3

Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome. Takuya Takeichi, Kazumitsu Sugiura, Hidee Arai, Ken Ishii, Michihiro Kono, Masashi Akiyama Acta Dermato-venereologica 2013 September 4, 93 (5): 579-80

A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome. Hajime Nakano, Eijiro Akasaka, Daiki Rokunohe, Shohei Yokoyama, Yuka Toyomaki, Noriko Umegaki, Yoshihiko Mitsuhashi, Daisuke Sawamura Journal of Dermatological Science 2008, 52 (2): 136-8

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome. Je Yeon Kim, Shin Hye Kim, Mi Jung Park, Soung Hee Kim, Woo Ho Cho, Jin Choi, Chang Seok Ki, Su Jeong You Annals of Laboratory Medicine 2018, 38 (1): 80-82

Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2. Gael Carney, Shu Wei, William B Rizzo Human Mutation 2004, 24 (2): 186

Make the most of Read.
Download the mobile app.

Want full text access to this paper?

Use Read by QxMD to access full text via your institution or open access sources.

Read also provides personalized recommendations to keep you up to date in your field.

Existing User

New to Read

Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome

Discussion

Related Papers

Want full text access to this paper?

Save your favorite articles in one place with a free QxMD account.

Read

Search Tips