Molecular diagnosis of putative Stargardt disease by capture next generation sequencing

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Zhang, Xiao ^a   Ge, Xianglian ^a   Shi, Wei ^b   Huang, Ping ^a   Min, Qingjie ^a   Li, Minghan ^a   Yu, Xinping ^a   Wu, Yaming ^a   Zhao, Guangyu ^c   Tong, Yi ^c   Jin, Zi Bing ^a   Qu, Jia ^a   Gu, Feng ^a  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

^c Fuzhou Southeast Eye Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ABCA4 GENE; ADOLESCENT; ADULT; ARTICLE; CAPTURE NEXT GENERATION SEQUENCING; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PROM1 GENE; RETINA CONE; SEQUENCE ANALYSIS; STARGARDT DISEASE; YOUNG ADULT; AMINO ACID SEQUENCE; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MACULAR DEGENERATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE;

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN; CD133 ANTIGEN; GLYCOPROTEIN; LEUKOCYTE ANTIGEN; PEPTIDE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANTIGENS, CD; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GLYCOPROTEINS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MACULAR DEGENERATION; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR SEQUENCE DATA; PEDIGREE; PEPTIDES; YOUNG ADULT;

EID: 84899730670     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0095528     Document Type: Article

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