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

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Schneider, Hauke ^a   Lingesleben, Alexandra ^b   Vogel, Hans Peter ^c   Garuti, Rita ^d   Calandra, Sebastiano ^e  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b Auguste Viktoria Klinikum   (Germany)

^c HELIOS KLINIKUM BERLIN BUCH   (Germany)

^d PROMEGA CORPORATION   (United States)

^e UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

26 HYDROXYCHOLESTEROL; 7ALPHA HYDROXYCHOLESTEROL; ALCOHOL; AMINO ACID; CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26 MONOOXYGENASE; CHOLESTANOL; CYSTEINE; GLUTAMINE; NUCLEOTIDE; PROTEIN; STEROL 27 HYDROXYLASE; THREONINE; CYP27A1 PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BILE; BLOOD SAMPLING; BRONCHITIS; CASE REPORT; CATARACT; CAUCASIAN; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL BLOOD LEVEL; CODON; DIARRHEA; ELECTROENCEPHALOGRAM; EXON; FECES; FEMALE; FRAMESHIFT MUTATION; GAIT DISORDER; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; LABORATORY TEST; LIPID BLOOD LEVEL; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PROTEIN FUNCTION; PSYCHOLOGIC TEST; PSYCHOMOTOR RETARDATION; SPASTIC PARESIS; TETRASPASTIC SYNDROME; URINE; DNA SEQUENCE; ENZYMOLOGY; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; RECESSIVE GENE;

ADULT; BASE SEQUENCE; CYTOCHROME P-450 CYP27A1; EXONS; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 77957298097     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-27     Document Type: Article

References (24)

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