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Weak D caused by a founder deletion in the RHD gene

✍ Scribed by Yann Fichou; Jian-Min Chen; Cédric Le Maréchal; Déborah Jamet; Isabelle Dupont; Claude Chuteau; Cécile Durousseau; Marie-Jeanne Loirat; Pascal Bailly; Claude Férec

Book ID
114754307
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
563 KB
Volume
52
Category
Article
ISSN
0372-1248

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Alport syndrome caused by a 5′ deletion
Alport syndrome caused by a 5′ deletion within the COL4A5 gene
✍ Alessandra Renieri; Marco Seri; Jeanne C. Myers; Taina Pihlajaniemi; Adalberto S 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 295 KB

Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.