Population frequency of the arylsulphatase A pseudo-deficiency allele

Human Genetics

Volumn 87, Issue 1, 1991, Pages 87-88

  Nelson, Paul V ^a   Carey, William F ^a   Morris, C Phillip ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARYLSULFATASE;

ALLELE; ARTICLE; ENZYME DEFICIENCY; GENE FREQUENCY; GENE STRUCTURE; GENETIC VARIABILITY; HUMAN; NORMAL HUMAN; NUCLEIC ACID BASE SUBSTITUTION; POPULATION GENETICS; PRIORITY JOURNAL;

ALLELES; AUSTRALIA; CEREBROSIDE-SULFATASE; GENE AMPLIFICATION; GENE FREQUENCY; HETEROZYGOTE; HUMAN; MUTATION;

EID: 0025844950     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF01213099     Document Type: Article

References (6)

1. Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy
2. Arylsulphatase A pseudodeficiency: loss of a polyadenylation signal and N-glycosylation site
3. Arylsulfatase A in pseudodeficiency
4. Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications
5. Metachromatic leukodystrophy and multiple ulfatase deficiency: sulfatide lipidosis