A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis

Neurology

Volumn 48, Issue 1, 1997, Pages 258-260

  Ahmed, M S ^a   Afsar, S ^b   Hentati, A ^a   Ahmad, A ^b   Pasha, J ^b   Juneja, T ^a,c   Hung, Wu Yen ^a   Ahmad, Ak ^b   Choudhri, A ^b   Saya, S ^b   Siddique, T ^a,b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b CIVIL HOSPITAL   (Pakistan)

^c NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OXYGENASE;

ADULT; ARTICLE; BILE ACID SYNTHESIS; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; DNA SEQUENCE; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STEROL METABOLISM;

EID: 0031037412     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.1.258     Document Type: Article

References (16)

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