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Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta

✍ Scribed by H.-K. Hyun; S.-K. Lee; K.-E. Lee; H.-Y. Kang; E.-J. Kim; P.-H. Choung; J.-W. Kim


Book ID
108784692
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
285 KB
Volume
42
Category
Article
ISSN
0143-2885

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Autosomal dominant polycystic kidney dis
✍ Rossetti, Sandro; Bresin, Elena; Restagno, Gabriella; Carbonara, Angelo; CorrΓ , πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 528 KB

Sixty-seven Italian patients with auto-soma1 dominant polycystic kidney disease (ADPKD) were screened for mutations in the 3' unique region of the PKDl gene, using heteroduplex DNA analysis. Novel aberrant bands were detected in 3 patients from the same family. DNA sequencing showed a C to T transit