✦ LIBER ✦

A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene

✍ Scribed by Guy Van Camp; Rikkert L. Snoeckx; Nele Hilgert; Jenneke van den Ende; Hisakumi Fukuoka; Michio Wagatsuma; Hiroaki Suzuki; R.M. Erica Smets; Filip Vanhoenacker; Frank Declau; Paul Van De Heyning; Shin-ichi Usami

Book ID: 117854872
Publisher: American Society of Human Genetics
Year: 2006
Tongue: English
Weight: 427 KB
Volume: 79
Category: Article
ISSN: 0002-9297
DOI: 10.1086/506478

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A loss of function mutation in the COL9A

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

✍ Stuart Baker; Carol Booth; Corrine Fillman; Michael Shapiro; Michael P. Blair; J 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 561 KB

Stickler syndrome caused by COL2A1 mutat

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

✍ Hoornaert, Kristien P; Vereecke, Inge; Dewinter, Chantal; Rosenberg, Thomas; Bee 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 548 KB

Splicing Mutations of 54-bp Exons in the

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

✍ Susanna Annunen; Jarmo Körkkö; Malwina Czarny; Matthew L. Warman; Han G. Brunner 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 225 KB

Determination of the Genomic Structure o

Determination of the Genomic Structure of the COL4A4 Gene and of Novel Mutations Causing Autosomal Recessive Alport Syndrome

✍ Eileen Boye; Géraldine Mollet; Lionel Forestier; Lola Cohen-Solal; Laurence Heid 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 241 KB

Autosomal recessive limbgirdle muscular

Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene

✍ Nigro, Vincenzo; Moreira, Eloisa de Sá; Piluso, Giulio; Vainzof, Mariz; Belsito, 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 532 KB

Erratum to: Stickler syndrome caused by

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

✍ Hoornaert, Kristien P; Vereecke, Inge; Dewinter, Chantal; Rosenberg, Thomas; Bee 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 83 KB