Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutation
Detection of RASA1 mutations in patients with sporadic Sturge–Weber syndrome
✍ Scribed by Qin Zhou; Jia-wei Zheng; Xiu-juan Yang; Hui-jun Wang; Duan Ma; Zhong-ping Qin
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 153 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0256-7040
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Marfan syndrome (MFS) is a disorder of the extracellular matrix caused by mutations in the gene encoding fibrillin-1 (FBN1). Recent studies have illustrated the variability in disease severity and clinical manifestations of MFS. Useful genotype-phenotype correlations have been slow to emerge. We scr
Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular matrix, is due to mutations in fibrillin-1 (FBN1) gene. Investigations carried out in the last decade, unveiled the unpredictability of the site of the mutation, which could be anywhere in the gene. FBN1 mutations have been r
Wolfram syndrome (WS) is a recessively inherited mendelian form of diabetes and neurodegeneration also known by the acronym DIDMOAD from the major clinical features, including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Affected individuals may also show renal tract abnormali