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Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
Author / Organization: Andreas Tzschach, Hao Hu, Reinhard Ullmann, Masoud Garshasbi, Wei Chen, Hans Hilger Ropers, Andreas Walter Kuss, Kimia Kahrizi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Hossein Najmabadi
| File Format | PDF (Portable Document Format) |
|---|---|
| Publication Year | 2010 |
| Source Host |
HAL Open Science
(hal.science)
|
| License / Terms | Open Access / Creative Commons |
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