Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]

European Journal of Human Genetics

Volumn 21, Issue 8, 2013, Pages 891-

  Witsch Baumgartner, Martina ^a   Sawyer, Hilary ^b   Haas, Dorothea ^c  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b NORTH BRISTOL NHS TRUST   (United Kingdom)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; 7-DEHYDROCHOLESTEROL REDUCTASE; OXIDOREDUCTASE;

ARTICLE; CHOLESTEROL BLOOD LEVEL; COST EFFECTIVENESS ANALYSIS; ETHNIC GROUP; EXON; GENE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; MASS FRAGMENTOGRAPHY; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; GENETIC SCREENING; GENETICS; HUMAN; MUTATION; PROGNOSIS; SENSITIVITY AND SPECIFICITY;

GENETIC TESTING; HUMANS; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PROGNOSIS; SENSITIVITY AND SPECIFICITY; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84880917939     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.255     Document Type: Article

References (18)

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