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Effects of a synonymous variant in exon 9 of the CD44 gene on pre-mRNA splicing in a family with osteoporosis

✍ Scribed by Christopher Vidal; Adela Cachia; Angela Xuereb-Anastasi


Book ID
116322470
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
1016 KB
Volume
45
Category
Article
ISSN
8756-3282

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New variant in exon 3 of the proteolipid
✍ Pratt, Victoria M. ;Trofatter, James A. ;Larsen, Marianne B. ;Hodes, M. E. ;Dlou πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 357 KB πŸ‘ 2 views

A C --> G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-Merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonucleas