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Volumn 52, Issue 6, 2008, Pages 497-499
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Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome
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Author keywords
Atrial septal defect; Ectopia lentis; Fibrillin 1; Marfan syndrome; Mutation
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Indexed keywords
FIBRILLIN 1;
GENOMIC DNA;
SILICONE OIL;
ADULT;
ARTICLE;
CASE REPORT;
CHOROID DETACHMENT;
DNA SCREENING;
ECTOPIA LENTIS;
GENE AMPLIFICATION;
GENE MUTATION;
HEART ATRIUM SEPTUM DEFECT;
HUMAN;
LENS LUXATION;
LENSECTOMY;
LEUKOCYTE;
MALE;
MARFAN SYNDROME;
PHENOTYPE;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
RETINA DETACHMENT;
VISUAL ACUITY;
VITRECTOMY;
ADULT;
ARGININE;
ASIAN CONTINENTAL ANCESTRY GROUP;
CHOROID DISEASES;
CYSTEINE;
CYTOSINE;
EXONS;
HEART SEPTAL DEFECTS, ATRIAL;
HUMANS;
LENS SUBLUXATION;
MALE;
MARFAN SYNDROME;
MICROFILAMENT PROTEINS;
MUTATION;
PHENOTYPE;
RETINAL DETACHMENT;
THYMINE;
TIME FACTORS;
VISUAL ACUITY;
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EID: 57849163748
PISSN: 00215155
EISSN: None
Source Type: Journal
DOI: 10.1007/s10384-008-0586-y Document Type: Article |
Times cited : (3)
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References (5)
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