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A family study of the Chinese Rhnull individual of the regulator type: a novel single missense mutation identified in RHAG gene

✍ Scribed by Li Tian; Ning Song; Zhi-Qiang Yao; Mei Huang; Li Hou


Book ID
109146513
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
495 KB
Volume
51
Category
Article
ISSN
0372-1248

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A novel missense mutation in exon 16 of
✍ Thierry Bienvenu; Dominique Hubert; Eric Setbon; Daniel Dusser; Jean-Claude Kapl πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 106 KB πŸ‘ 2 views

## MUTATION NOTES nucleotides downstream the original splice site in intron 3. Assuming that this would be used in the patient as donor splice site, the inclusion of 4 intronic nucleotides, frameshift, and thereby an immediate termination of translation would occur, most likely resulting in a null