Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis
Indian J Med Res
.
2023 Apr;157(4):363-366.
doi: 10.4103/ijmr.IJMR_3568_20.
Authors
Amrita Bhattacherjee
1
,
Elyska Desa
2
,
Kaisar Ahmad Lone
3
,
Arjita Jaiswal
1
,
Shweta Tyagi
3
,
Ashwin Dalal
1
Affiliations
1
Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad 500 039, India.
2
Department of Pediatrics, Hospicio Hospital, Margao 403 601, Goa, India.
3
Laboratory of Cell Cycle Regulation, Centre for DNA Fingerprinting & Diagnostics, Hyderabad 500 039, India.
PMID:
37282399
PMCID:
PMC10438398
DOI:
10.4103/ijmr.IJMR_3568_20
No abstract available
MeSH terms
Fucosidosis* / genetics
Genotype
Humans