✦ LIBER ✦

A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene

✍ Scribed by Antti M. Salo; Helen Cox; Peter Farndon; Celia Moss; Helen Grindulis; Maija Risteli; Simon P. Robins; Raili Myllylä

Book ID: 113422536
Publisher: American Society of Human Genetics
Year: 2008
Tongue: English
Weight: 944 KB
Volume: 83
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2008.09.004

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A Novel Mutation in the Lysyl Hydroxylas

A Novel Mutation in the Lysyl Hydroxylase 1 Gene Causes Decreased Lysyl Hydroxylase Activity in an Ehlers-Danlos VIA Patient

✍ Walker, Linda C.; Overstreet, Mayra A.; Siddiqui, Adnan; De Paepe, Anne; Ceylane 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 173 KB

Tissue specificity of a new splice form

Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene

✍ Heather N. Yeowell; Linda C. Walker 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 187 KB

Refsum disease is caused by mutations in

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

✍ Jansen, Gerbert A.; Oftnan, Rob; Ferdinandusse, Sacha; Ijlst, Lodewijk; Muijsers 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 485 KB

Newly identified milder phenotype of per

Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene

✍ Matsui, Shuji; Funahashi, Masuko; Honda, Ayako; Shimozawa, Nobuyuki 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 681 KB

Mutations in B3GALT6, which Encodes a Gl

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

✍ Nakajima, Masahiro; Mizumoto, Shuji; Miyake, Noriko; Kogawa, Ryo; Iida, Aritoshi 📂 Article 📅 2013 🏛 American Society of Human Genetics 🌐 English ⚖ 405 KB

A Common Duplication in the Lysyl Hydrox

A Common Duplication in the Lysyl Hydroxylase Gene of Patients with Ehlers Danlos Syndrome Type VI Results in Preferential Stimulation of Lysyl Hydroxylase Activity and mRNA by Hydralazine

✍ Heather N. Yeowell; Linda C. Walker; Saood Murad; Sheldon R. Pinnell 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 247 KB