Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family-Reference-Cited by-同舟云学术

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family

Author:

do Rosario Michelle C.¹,Purushothama Greeshma¹,Narayanan Dhanya Lakshmi¹²,Siddiqui Shahyan³,Girisha Katta Mohan¹,Shukla Anju¹

Affiliation:

1. Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka

2. DBT, Wellcome Trust India Alliance, Early Career Clinical and Public Health Research Fellowship

3. Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, India

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference12 articles.

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