A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family

Molecular Vision

Volumn 18, Issue , 2012, Pages 81-86

  Dong, Jiamei ^a,b   Bu, Juan ^a   Du, Wei ^c   Li, Yuan ^d   Jia, Yanlei ^e   Li, Jianchang ^d   Meng, Xiaoli ^f   Yuan, Minghui ^g   Peng, Xiaojuan ^g   Zhou, Aimin ^h   Wang, Lejin ^a  

^a PEKING UNIVERSITY THIRD HOSPITAL   (China)

^b Department of Cardiology   (China)

^c YANGZHOU UNIVERSITY   (China)

^d Jianping County Hospital   (China)

^e Municipal Hospital of Zaozhuang   (China)

^f General Hospital of the Second Artillery   (China)

^g The 188 PLA hospital   (China)

^h CLEVELAND STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GENOMIC DNA; GLYCINE;

ADULT; AGED; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY ASSESSMENT; FEMALE; FIBRILLIN 1 GENE; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; LEUKOCYTE CULTURE; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; OPEN READING FRAMES; PEDIGREE; PHENOTYPE;

EID: 84863042884     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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