Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

Journal of medical genetics

Volumn 41, Issue 2, 2004, Pages

  Johnson, S ^a   Michaelides, M ^a   Aligianis, I A ^a   Ainsworth, J R ^a   Mollon, J D ^a   Maher, E R ^a   Moore, A T ^a   Hunt, D M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CNGB3 PROTEIN, HUMAN; CYCLIC NUCLEOTIDE GATED ION CHANNELS; CYCLIC-NUCLEOTIDE GATED ION CHANNELS; ION CHANNEL;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHEMISTRY; CHILD; CLINICAL TRIAL; COLOR VISION DEFECT; FEMALE; GENETICS; GENOTYPE; HUMAN; MALE; METABOLISM; METHODOLOGY; MIDDLE AGED; MULTICENTER STUDY; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; COLOR VISION DEFECTS; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; ION CHANNELS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 17644448728     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2003.011437     Document Type: Article

References (0)