Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

doi:10.1002/(SICI)1098-1004(1997)10:6<451::AID-HUMU6>3.0.CO;2-G

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Article

Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

Human mutation - 1 Jan 1997

Drucker L, Hemli J A, Navon R

Abstract excerpt

Two affected HEXA alleles were found in an Israeli Druze Tay-Sachs child born to first-cousin parents. His paternal allele contained two adjacent changes in exon 5: delta496C, which resulted in a frameshift and premature termination codon 96 nucleotides downstream, and 498C-->G, a silent mutation...

Topics

Alleles
Animals
COS Cells
Child, Preschool
Consanguinity
Female
Frameshift Mutation
Genes
Hexosaminidase A
Humans
Israel
Male
Point Mutation
Polymorphism, Single-Stranded Conformational
RNA, Messenger
Sequence Analysis, DNA
Tay-Sachs Disease
Transfection

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