✦ LIBER ✦

Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome

✍ Scribed by Joakim Klar; Martina Schweiger; Robert Zimmerman; Rudolf Zechner; Hao Li; Hans Törmä; Anders Vahlquist; Bakar Bouadjar; Niklas Dahl; Judith Fischer

Book ID: 113422668
Publisher: American Society of Human Genetics
Year: 2009
Tongue: English
Weight: 733 KB
Volume: 85
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2009.06.021

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular aspects of fatty acid transpor

Molecular aspects of fatty acid transport: mutations in the IYTSGTTGXPK motif impair fatty acid transport protein function

✍ S.M. Stuhlsatz-Krouper; N.E. Bennett; J.E. Schaffer 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 597 KB

Mutations in the gene encoding the human

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

✍ Munroe, Patricia B.; Olgunturk, Rana O.; Fryns, Jean-Pierre; Maldergem, Lionel V 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 219 KB

Correction: Mutations in the protein tyr

Correction: Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan syndrome

✍ Hodgson, G.; Hager, J.H.; Volik, S.; Hariono, S.; Wernick, M.; Moore, D.; Nowak, 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 45 KB

Mutations in the gene encoding the basal

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

✍ Arts, Heleen H; Doherty, Dan; van Beersum, Sylvia E C; Parisi, Melissa A; Letteb 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 565 KB

Mutations in the gene encoding methyl-Cp

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome

✍ Ignatia B. Van den Veyver; Huda Y. Zoghbi 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 132 KB

Sjögren–Larsson syndrome is caused by mu

Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

✍ Laurenzi, Vincenzo De; Rogers, Geraldine R.; Hamrock, David J.; Marekov, Lyuben 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 739 KB