|
|||||
|
|
Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype |
|
| Authors: | Shagun Aggarwal S. Jamal Mohamed Nurul Jain Aneek D. Bhowmik Ashwani Tandon Ashwin Dalal |
| Affiliation: | 1. Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India;2. Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India;3. Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, India |
| Abstract: | |
| Keywords: | Gaucher disease pseudogene recombinant alleles ichthyosis |