Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene

Molecular Genetics and Metabolism

Volumn 81, Issue 2, 2004, Pages 144-146

  Mak, Chloe M ^a   Lam, Karen S L ^a   Tan, Kathryn C B ^a   Ma, Oliver C ^a   Tam, Sidney ^a  

^a QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

Cerebrotendinous xanthomatosis; CYP27A1; Hong kong Chinese; Normocholesterolemic tendon xanthomas; Novel splicing mutation; Sterol 27 hydroxylase

Indexed keywords

STEROL 27 HYDROXYLASE;

ADULT; ANAMNESIS; ARTICLE; BONE MINERAL; CASE REPORT; DOPPLER FLOWMETRY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; LABORATORY TEST; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MASS SCREENING; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RNA SPLICING; SYMPTOMATOLOGY; XANTHOMATOSIS;

RAPHIA FRATER; SAMBUCUS NIGRA CANADENSIS;

EID: 0347931741     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2003.11.005     Document Type: Article

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