Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

Journal of Human Genetics

Volumn 54, Issue 12, 2009, Pages 732-738

  Yan, Denise ^a   Ouyang, Xiaomei ^a   Patterson, D Michael ^a   Du, Li Lin ^a   Jacobson, Samuel G ^b   Liu, Xue Zhong ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Mutations; USH2; USH2A; Usher syndrome; Usherin

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EUROPEAN AMERICAN; EXON; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM; USHER SYNDROME; USHER SYNDROME 2 GENE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC TESTING; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN ISOFORMS; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; UNITED STATES; USHER SYNDROMES;

EID: 73649106912     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.107     Document Type: Article

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