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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Novel gene mutation in von Hippel-Lindau disease – a report of two cases

Fig. 4

VHL gene and testing results of case 1. a The top row shows the wild-type human VHL DNA sequence segment of 721–770 from the NCBI database (NM_000551.3). The nucleotide database includes EST and GSS sequences. The bottom row shows the deletion of the GACTGGA sequence in the VHL gene of the subject. b Genetic testing results of the patient’s VHL gene, indicating the deletion of the GACTGGA sequence, leading to an amino acid Arg-177 change in case 1

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