Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

Journal of Medical Genetics

Volumn 45, Issue 4, 2008, Pages 200-209

  Witsch Baumgartner, M ^a   Schwentner, I ^a   Gruber, M ^a   Benlian, P ^b   Bertranpetit, J ^c   Bieth, E ^d   Chevy, F ^b   Clusellas, N ^e   Estivill, X ^f   Gasparini, G ^g   Giros, M ^e   Kelley, R I ^h   Krajewska Walasek, M ⁱ   Menzel, J ^a   Miettinen, T ^j   Ogorelkova, M ^f   Rossi, M ^k   Scala, I ^k   Schinzel, A ^l   Schmidt, K ^a   Schonitzer D ^m   Seemanova, E ⁿ   Sperling, K ^o   Syrrou, M ^p   Talmud, P J ^q   Wollnik, B ^r   Krawczak, M ^s   Labuda, D ^t   Utermann, G ^a   more..

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b HÔPITAL SAINT ANTOINE   (France)

^c UNIVERSITAT POMPEU FABRA   (Spain)

^d CHU PURPAN   (France)

^e HOSPITAL CLÍNIC   (Spain)

^f CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^g UNIVERSITY OF TRIESTE   (Italy)

^h KENNEDY KRIEGER INSTITUTE   (United States)

ⁱ CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^j UNIVERSITY OF HELSINKI   (Finland)

^k UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^l UNIVERSITY OF ZURICH   (Switzerland)

^m Central Institute for Blood Transfusion   (Austria)

ⁿ UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^o CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^p UNIVERSITY OF IOANNINA   (Greece)

^q UNIVERSITY COLLEGE LONDON   (United Kingdom)

^r UNIVERSITY OF COLOGNE   (Germany)

^s UNIVERSITY OF KIEL   (Germany)

^t UNIVERSITY OF MONTREAL   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; DNA EXTRACTION; DNA REPLICATION ORIGIN; EUROPE; FREQUENCY ANALYSIS; GENE FREQUENCY; GENE MUTATION; GENETIC PREDISPOSITION; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; ORTHOLOGY; POPULATION; PREVALENCE; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ALLELES; ANIMALS; BASE SEQUENCE; DNA PRIMERS; EUROPE; EVOLUTION, MOLECULAR; FOUNDER EFFECT; GENETICS, POPULATION; HAPLOTYPES; HUMANS; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PAN TROGLODYTES; POLYMORPHISM, SINGLE NUCLEOTIDE; SMITH-LEMLI-OPITZ SYNDROME;

PAN; PAN TROGLODYTES;

EID: 42049113582     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.053520     Document Type: Article

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