Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

Human Genetics

Volumn 122, Issue 1, 2007, Pages 23-32

  Mátyás, Gábor ^a   Alonso, Sira ^a   Patrignani, Andrea ^a   Marti, Myriam ^a   Arnold, Eliane ^b   Magyar, István ^a   Henggeler, Caroline ^a   Carrel, Thierry ^c   Steinmann, Beat ^b   Berger, Wolfgang ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c BERN UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1; GENOMIC DNA;

ALLELE; ARTICLE; CONTROLLED STUDY; GENE AMPLIFICATION; GENE DELETION; GENE MAPPING; GENE REARRANGEMENT; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MARFAN SYNDROME; MICROARRAY ANALYSIS; MOLECULAR PROBE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION;

BASE SEQUENCE; CHROMOSOME BREAKAGE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENETIC SCREENING; HAPLOTYPES; HUMANS; LOSS OF HETEROZYGOSITY; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER;

EID: 34447263560     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-007-0371-x     Document Type: Article

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