| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8315900 | Clinica Chimica Acta | 2011 | 7 Pages |
Abstract
⺠First report from India on mutational spectrum of X-ALD patients. ⺠In twenty X-ALD patients, six reported and four novel mutations were found. ⺠Prenatal diagnosis done in one family showed normal result. ⺠No genotype-phenotype correlation was found. ⺠The study helps in diagnosis and genetic counseling of Indian X-ALD patients.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Pallavi Shukla, Neerja Gupta, Sheffali Gulati, Manju Ghosh, Suman Vasisht, Raju Sharma, Arun K. Gupta, Veena Kalra, Madhulika Kabra,