A novel mutation inNDUFS4causes Leigh syndrome in an Ashkenazi Jewish family
β Scribed by S. L. Anderson; W. K. Chung; J. Frezzo; J. C. Papp; J. Ekstein; S. DiMauro; B. Y. Rubin
- Book ID
- 106374453
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 146 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0141-8955
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Bloom's syndrome (BS) is a rare, autosomal recessive disease characterized by sun sensitivity, short stature, and predisposition to cancer. Although rare in the general population, BS is more common in the Ashkenazi Jewish population (German, 1993). The isolation of the gene for BS, known as BLM, ha
## Abstract Xβlinked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) is a late onset progressive skeletal disorder, which manifests in childhood and is characterized by disproportionate short stature with a short trunk, barrel chest and absence of systemic complications. We found a singleβnuc