Arg120stop nonsense mutation in the RP2 gene: Mutational hotspot and germ line mosaicism?

Clinical Genetics

Volumn 65, Issue 1, 2004, Pages 7-10

  Vorster, A A ^a   Rebello, M T ^a   Coutts, N ^a   Ehrenreich, L ^a   Gama, A D ^a   Roberts, L J ^a   Goliath, R ^a   Ramesar, R ^a   Greenberg, L J ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

Genetic counseling; Germ line mosaic; RP2; X linked retinitis pigmentosa

Indexed keywords

ARGININE; CYTOSINE; THYMINE;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; EPIGENETICS; EXON; FEMALE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GERM LINE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOSAICISM; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RETINA PIGMENT DEGENERATION; RISK ASSESSMENT; SEQUENCE ANALYSIS; SOMATIC CELL; SOUTH AFRICA; STOP CODON; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; ARGININE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EPIGENESIS, GENETIC; EXONS; EYE PROTEINS; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MICROTUBULES; MOSAICISM; PEDIGREE; RETINITIS PIGMENTOSA; RISK ASSESSMENT;

EID: 1642474064     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j..2004.00163.x     Document Type: Article

References (12)

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