๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

โœ Scribed by Tassabehji, Mayada; Read, Andrew P.; Newton, Valerie E.; Harris, Rodney; Balling, Rudi; Gruss, Peter; Strachan, Tom

Book ID
109779665
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
250 KB
Volume
355
Category
Article
ISSN
0028-0836

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Mutations in the human homologue of Dros
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients
โœ Katsunori Fujii; Yoichi Kohno; Katsuo Sugita; Mihoko Nakamura; Yoichi Moroi; Kaz ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 331 KB ๐Ÿ‘ 1 views

Mutations in the human homologue of Drosophila patched (PTCH) have been identified in patients with nevoid basal cell carcinoma syndrome (NBCCS; also called Gorlin syndrome) as well as sporadic basal cell carcinomas and medulloblastomas. However, using PCR-SSCP analysis, mutations in PTCH have been

Myelomeningocele and Waardenburg syndrom
Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect
โœ Nye, Jeffrey S.; Balkin, Nancy; Lucas, Heather; Knepper, Paul A.; McLone, David ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 47 KB ๐Ÿ‘ 1 views

From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc