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

✍ Scribed by Susanna Annunen; Jarmo Körkkö; Malwina Czarny; Matthew L. Warman; Han G. Brunner; Helena Kääriäinen; John B. Mulliken; Lisbeth Tranebjærg; David G. Brooks; Gerald F. Cox; Johan R. Cruysberg; Mary A. Curtis; Sandra L.H. Davenport; Christopher A. Friedrich; Ilkka Kaitila; Maciej Robert Krawczynski; Anna Latos-Bielenska; Shitzuo Mukai; Björn R. Olsen; Nancy Shinno; Mirja Somer; Miikka Vikkula; Joel Zlotogora; Darwin J. Prockop; Leena Ala-Kokko

Book ID: 117853007
Publisher: American Society of Human Genetics
Year: 1999
Tongue: English
Weight: 225 KB
Volume: 65
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302585

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Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome

✍ Audrey McAlinden; Marja Majava; Paul N. Bishop; Rahat Perveen; Graeme CM. Black; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB

Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null-allele mutations in the COL2A1 gene that codes for procollagen II. COL2A1 precursor mRNA undergoes alternative splicing, resulting in two isoforms, a long