Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus
β Scribed by Andrew J. Griffith; Leslie K. Sprunger; D. Alexa Sirko-Osadsa; George E. Tiller; Miriam H. Meisler; Matthew L. Warman
- Book ID
- 117852353
- Publisher
- American Society of Human Genetics
- Year
- 1998
- Tongue
- English
- Weight
- 341 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/301789
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Characterization of the UGT1 gene complex locus encoding both multiple bilirubin and phenol UDP-glucuronosyltransferases (transferases) has been critical in identifying mutations in the bilirubin isoforms. This study utilizes this information to identify the bases of deficient bilirubin UDP-glucuron
The COL5A1 gene, which encodes the pro alpha 1(V) chain, was recently mapped to 9q34.3 in the same region as the nail-patella locus. This was taken as an indication that the nail-patella syndrome may be an inherited connective tissue disorder. We demonstrate COL5A1 heterozygous deletion and fibrobla