Exome sequencing identified new mutations in a Marfan syndrome family

Diagnostic Pathology

Volumn 9, Issue 1, 2014, Pages

  Li, Guangxin ^a   Yu, Jian ^b   Wang, Kun ^a   Wang, Bin ^a   Wang, Minghai ^a   Zhang, Shuguang ^a   Qin, Shiyong ^a   Yu, Zhenhai ^a  

^a THE FIRST AFFILIATED HOSPITAL OF SHANDONG FIRST MEDICAL UNIVERSITY   (China)

^b SHANDONG UNIVERSITY   (China)

Author keywords

Exome sequencing; FBN1; Marfan syndrome; New mutations; RP1

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; LRP1 PROTEIN, HUMAN;

ADULT; ARTICLE; EXOME; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; MALE; MARFAN SYNDROME; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION;

ADULT; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC TESTING; HUMANS; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-1; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 84893192163     PISSN: None     EISSN: 17461596     Source Type: Journal    
DOI: 10.1186/1746-1596-9-25     Document Type: Article

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