Achromatopsia: The CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14

Human Genetics

Volumn 121, Issue 3-4, 2007, Pages 433-439

  Wiszniewski, Wojciech ^a   Lewis, Richard Alan ^a   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATION CHANNEL; PROTEIN CNGB3; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 14; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COLOR BLINDNESS; CONTROLLED STUDY; FAMILY; FOUNDER EFFECT; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

CHROMOSOMES, HUMAN, PAIR 14; COLOR VISION DEFECTS; FOUNDER EFFECT; HUMANS; ION CHANNELS; MUTATION; PHENOTYPE; RETINAL DISEASES; UNIPARENTAL DISOMY;

EID: 34147118600     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0314-y     Document Type: Article

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