Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

Human molecular genetics

Volumn 23, Issue 19, 2014, Pages 5283-5293

  Yu, Yi ^a   Triebwasser, Michael P ^a   Wong, Edwin K S ^b   Schramm, Elizabeth C ^a   Thomas, Brett ^a   Reynolds, Robyn ^a   Mardis, Elaine R ^a   Atkinson, John P ^a   Daly, Mark ^a   Raychaudhuri, Soumya ^a   Kavanagh, David ^a   Seddon, Johanna M ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3B; COMPLEMENT FACTOR H; PROTEIN BINDING;

ALLELE; CHEMICAL STRUCTURE; EXOME; FEMALE; GENE FREQUENCY; GENETIC LINKAGE; GENETIC VARIABILITY; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; KINETICS; MACULAR DEGENERATION; MALE; METABOLISM; PEDIGREE; PROTEIN CONFORMATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; COMPLEMENT C3B; COMPLEMENT FACTOR H; EXOME; FEMALE; GENE FREQUENCY; GENETIC VARIATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KINETICS; LOD SCORE; MACULAR DEGENERATION; MALE; MODELS, MOLECULAR; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; PROTEIN CONFORMATION;

EID: 84964316011     PISSN: None     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu226     Document Type: Article

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