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Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

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Year: 2010
Type: article
Source: European Journal of Human Genetics
DOI: 10.1038/ejhg.2010.132
Authors: Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, H-Hilger Ropers, Andreas W Kuss, Hossein Najmabadi, Andreas Tzschach
Institutions: University of Social Welfare and Rehabilitation Sciences, Max Planck Society, Max Planck Institute for Molecular Genetics
Language: English

Topic: Genomics and Rare Diseases
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze

Funders: National Science Foundation, Bundesministerium für Bildung und Forschung
OpenAlex ID: W1984039347
FWCI: 3.335
Cites: 9
Cited by: 67
Related to: 10
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