𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel mutation in the 5? splice site of exon 4 of theTCOF1 gene in the patient with Treacher Collins syndrome

✍ Scribed by Marszalek, Bozena ;Wisniewski, Slawomir A. ;Wojcicki, Piotr ;Kobus, Kazimierz ;Trzeciak, Wieslaw H.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
138 KB
Volume
123A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Fifteen novel mutations in the JAGGED1 g
✍ CΓ©cile Crosnier; Catherine Driancourt; Nicole Raynaud; Michelle Hadchouel; MichΓ¨ πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 23 KB πŸ‘ 2 views

Mutations in the human JAGGED1 gene cause Alagille syndrome, an autosomal dominant developmental disorder. The gene encodes a transmembrane protein which is a ligand of Notch receptors. We report 23 mutations in previously undescribed probands, including 15 novel mutations and 8 recurrent mutations.

Mutation screening of all 65 exons of th
✍ Caroline Hayward; Mary E. Porteous; David J. H. Brock πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 261 KB πŸ‘ 2 views

Mutations in the fibrillin-1 gene on chromosome 15q21.1 have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndr