Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays

General Physiology and Biophysics

Volumn 28, Issue 1, 2009, Pages 8-15

  Kolejákiová, Katarína ^a   Petrovič, Robert ^a   Futas, Ján ^a   Turǎáni, Peter ^a   Ďurovčíková, Darina ^a   Chandoga, Ján ^a  

^a UNIVERSITY HOSPITAL BRATISLAVA   (Slovakia)

Author keywords

7 dehydrocholesterol; DHCR7 gene; DHCR7 mutation analysis; Slovak patients; Smith Lemli Optiz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; ARGININE; CHOLESTEROL; CHOLESTEROL OXIDASE; CYSTEINE; GLYCINE; LEUCINE; PROLINE; SERINE; STEROL; TRYPTOPHAN; TYROSINE; UNCLASSIFIED DRUG; VALINE;

ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; CHILD; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GAS CHROMATOGRAPHY; GENE MUTATION; HUMAN; INFANT; MALE; MASS SPECTROMETRY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SEQUENCE ANALYSIS; SLOVAKIA; SMITH LEMLI OPITZ SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; POLYMERASE CHAIN REACTION; SLOVAKIA; SMITH-LEMLI-OPITZ SYNDROME;

EID: 65349084411     PISSN: 02315882     EISSN: None     Source Type: Journal    
DOI: 10.4149/gpb_2009_01_8     Document Type: Article

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