Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.

Journal of medical genetics

Volumn 39, Issue 10, 2002, Pages

  Paloma, E ^a   Martinez Mir A ^a   Garcia Sandoval B ^a   Ayuso, C ^a   Vilageliu, L ^a   Gonzalez Duarte R ^a   Balcells, S ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC NUCLEOTIDE GATED ION CHANNELS; CYCLIC-NUCLEOTIDE GATED ION CHANNELS; DNA; EYE PROTEIN; ION CHANNEL;

ADULT; ARTICLE; COMPARATIVE STUDY; CONSANGUINITY; FEMALE; GENETICS; HOMOZYGOTE; HUMAN; MALE; METHODOLOGY; MIDDLE AGED; MUTATION; NUCLEAR FAMILY; NUCLEOTIDE SEQUENCE; PEDIGREE; RECESSIVE GENE; RETINITIS PIGMENTOSA; SPAIN;

ADULT; CONSANGUINITY; DNA; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; ION CHANNELS; MALE; MIDDLE AGED; MUTATION; NUCLEAR FAMILY; PEDIGREE; RETINITIS PIGMENTOSA; SPAIN;

EID: 0036778181     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.39.10.e66     Document Type: Article

References (0)