A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

Clinical Endocrinology

Volumn 69, Issue 1, 2008, Pages 61-68

  Araújo Vilar, David ^a   Lado Abeal, Joaquin ^a   Palos Paz, Fernando ^a   Lattanzi, Giovanna ^b   Bandín, Manuel A ^c   Bellido, Diego ^d   Domínguez Gerpe, Lourdes ^a   Calvo, Carlos ^c   Pérez, Oscar ^a   Ramazanova, Alia ^a   Martínez Sánchez, Noelia ^a   Victoria, Berta ^a   Costa Freitas, Ana Teresa ^a  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b CNR   (Italy)

^c Instituto de Salud Carlos III   (Spain)

^d Universidad de La Coruña   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CY3 FLAG ANTIBODY CONJUGATE; CYSTEINE; LAMIN A; MONOCLONAL ANTIBODY; PHENYLALANINE;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; AORTA DISEASE; AORTA STENOSIS; ARTICLE; BODY COMPOSITION; CASE REPORT; CONJUGATION; DISEASE SEVERITY; DUAL ENERGY X RAY ABSORPTIOMETRY; ECHOCARDIOGRAPHY; EXON; FAMILIAL PARTIAL LIPODYSTROPHY; FAMILY HISTORY; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC TRANSFECTION; HEREDITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INSULIN RESISTANCE; LIPODYSTROPHY; LMNA GENE; MALE; MISSENSE MUTATION; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; PHENOTYPE; PRIORITY JOURNAL; PROADIPOCYTE; PROTEIN ANALYSIS; RELATIVE; SCHOOL CHILD; SUBCUTANEOUS FAT; WILD TYPE;

3T3-L1 CELLS; ADULT; ANIMALS; AORTIC VALVE STENOSIS; BASE SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; FEMALE; HUMANS; INSULIN RESISTANCE; LAMIN TYPE A; LIPODYSTROPHY, FAMILIAL PARTIAL; MICE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 45349101054     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.03146.x     Document Type: Article

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