Phenotypic variability in marfan syndrome in a family with a novel nonsense FBN1 gene mutation;Variabilidad fenotípica del síndrome de Marfan en una familia con una nueva mutación en el gen FBN1

Revista Espanola de Cardiologia

Volumn 65, Issue 4, 2012, Pages 380-381

  Díaz De Bustamante, Aránzazu ^a   Ruiz Casares, Eva ^b   Darnaude, M Teresa ^a   Perucho, Teresa ^b   Martínez Quesada, Gabriel ^a  

^a HOSPITAL DE MÓSTOLES   (Spain)

^b Genyca Innova   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; PROTEIN FBN1; UNCLASSIFIED DRUG;

FAMILY STUDY; GENE MUTATION; HUMAN; LETTER; MARFAN SYNDROME; NONSENSE MUTATION;

ADULT; AORTA; CODON, NONSENSE; DNA; EXONS; FAMILY; FEMALE; GENETIC COUNSELING; HETEROZYGOTE; HUMANS; INTRONS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84858865994     PISSN: 03008932     EISSN: 15792242     Source Type: Journal    
DOI: 10.1016/j.recesp.2011.05.027     Document Type: Letter

References (5)

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