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Volumn 91, Issue 2, 2012, Pages 233-235
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Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome
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Author keywords
de novo mutation; FBN1 gene; Marfan syndrome; nonsense mutation
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Indexed keywords
ACTIN BINDING PROTEIN;
FIBRILLIN;
ARTICLE;
CASE REPORT;
CHILD;
GENETIC ASSOCIATION;
GENETICS;
HUMAN;
MALE;
MARFAN SYNDROME;
MISSENSE MUTATION;
NUCLEOTIDE SEQUENCE;
PEDIGREE;
BASE SEQUENCE;
CHILD;
DNA MUTATIONAL ANALYSIS;
GENETIC ASSOCIATION STUDIES;
HUMANS;
MALE;
MARFAN SYNDROME;
MICROFILAMENT PROTEINS;
MUTATION, MISSENSE;
PEDIGREE;
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EID: 84866120150
PISSN: 00221333
EISSN: 09737731
Source Type: Journal
DOI: 10.1007/s12041-012-0165-3 Document Type: Article |
Times cited : (6)
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References (4)
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