Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy

Molecular Vision

Volumn 13, Issue , 2007, Pages 1777-1782

  Yellore, Vivek S ^a   Khan, M Ali ^a   Bourla, Nirit ^a   Rayner, Sylvia A ^a   Chen, Michael C ^a   Sonmez, Baris ^a   Momi, Rominder S ^a   Sampat, Kapil M ^a   Gorin, Michael B ^a   Aldave, Anthony J ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; GENE PRODUCT; GLYCINE; LEUCINE; PROTEIN UBIAD1; SERINE; UBIA PRENYLTRANSFERASE DOMAIN CONTAINING PROTEIN 1; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 1P; CONTROLLED STUDY; CORNEA DYSTROPHY; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING; SCHNYDER CRYSTALLINE CORNEA DYSTROPHY; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; ASPARAGINE; CORNEAL DYSTROPHIES, HEREDITARY; FEMALE; HUMANS; LEUCINE; MALE; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SERINE; VALINE;

EID: 34848859527     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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