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Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients

✍ Scribed by Jose Antonio Aragon-Martin; Dana Ahnood; David G Charteris; Anand Saggar; Ken K Nischal; Paolo Comeglio; Aman Chandra; Anne H Child; Gavin Arno

Book ID
102266432
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
135 KB
Volume
31
Category
Article
ISSN
1059-7794

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Identification of 9 novel FBN1 mutations
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome
✍ Alice Abd El-Aleem; Matthias Karck; Axel Haverich; JΓΆrg Schmidtke; Mine Arslan-K πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 2 views

We report 9 new mutations in German patients presenting with classical Marfan syndrome. All mutations occur in exons with calcium-binding (cb) epidermal growth factor-like (EGF) domains. Five mutations are missense involving exons 12, 27, 30, 44, and 52 with the resultant substitution of cysteine by