Identification of two novel mutations in families with X-linked ocular albinism

Molecular Vision

Volumn 13, Issue , 2007, Pages 1856-1861

  Iannaccone, Alessandro ^a   Gallaher, Kevin T ^a   Buchholz, Janda ^b   Jennings, Barbara J ^a   Neitz, Maureen ^c   Sidjanin, Duska J ^c  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b CHILDREN S MERCY HOSPITAL   (United States)

^c EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; DISULFIDE; G PROTEIN COUPLED RECEPTOR; GENOMIC DNA; GLYCINE; GUANINE; SERINE; TYROSINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL FEATURE; DNA ISOLATION; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC CONSERVATION; GENETIC SCREENING; HUMAN; HUMAN CELL; INTRON; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; UNITED STATES; VISUAL SYSTEM EXAMINATION; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; ALBINISM, OCULAR; AMINO ACID SUBSTITUTION; CYSTEINE; EYE PROTEINS; FEMALE; GENE DELETION; GENETIC DISEASES, X-LINKED; GLYCINE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; PEDIGREE; TWINS, MONOZYGOTIC;

EID: 34948893453     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

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