The human gene mutation database
β Scribed by Michael Krawczak; David N. Cooper
- Book ID
- 114173731
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 240 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0168-9525
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Germline mutations of the TBX5 gene were identified as the primary cause in up to 70 % of patients with Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by malformations of the upper limbs and cardiac defects. Furthermore, somatic mutations of the TBX5 gene have been described
## Communicated by Richard G.H. Cotton In this report, we analyze data assembled in the Blood Group Antigen Gene Mutation Database (www.bioc.aecom.yu.edu/bgmut/index.htm), which describes sequence information on human genes associated with expression of the various serologically-determined blood g
We have constructed a relational database of hemoglobin variants and thalassemia mutations, called HbVar, which can be accessed on the web at http://globin.cse.psu.edu. Extensive information is recorded for each variant and mutation, including a description of the variant and associated pathology, h