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A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient
Author(s) -
Regis Stefano,
Filocamo Mirella,
Stroppiano Marina,
Corsolini Fabio,
Gatti Rosanna
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02518.x
Subject(s) - metachromatic leukodystrophy , arylsulfatase a , exon , mutation , transition (genetics) , arylsulfatase , genetics , gene , allele , leukodystrophy , biology , microbiology and biotechnology , medicine , enzyme , biochemistry , disease
A T >C transition (L428P) was detected in the arylsulfatase A alleles of a late infantile metachromatic leukodystrophy patient. The mutation causes a Leu > Pro substitution in exon 8. It lies in a region conserved among arylsulfatases. The mutation was not detected in 37 other patients and in 57 normal controls.