title: Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype.
authors.affiliation: Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.|Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Shagun
authors.initials: S
authors.lastname: Aggarwal
authors.affiliation: Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: S Jamal Mohamed Nurul
authors.initials: SJ
authors.lastname: Jain
authors.affiliation: Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Aneek D
authors.initials: AD
authors.lastname: Bhowmik
authors.affiliation: Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, India.
authors.forename: Ashwani
authors.initials: A
authors.lastname: Tandon
authors.affiliation: Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Ashwin
authors.initials: A
authors.lastname: Dalal
mesh_terms: D001344:Autopsy; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005333:Fetus / Q000002:abnormalities; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007057:Ichthyosis / Q000150:complications* / Q000235:genetics*; D008969:Molecular Sequence Data; D010290:Parents; D010641:Phenotype; D011994:Recombinant Proteins / Q000235:genetics*
chemical_list: D011994:Recombinant Proteins; D005962:Glucosylceramidase
keywords: Gaucher disease; ichthyosis; pseudogene; recombinant alleles