A novel mutation in exon 17 of the β-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

Human Genetics

Volumn 97, Issue 1, 1996, Pages 35-38

  Valverde, Diana ^a   Solans, Teresa ^a   Grinberg, Daniel ^c   Balcells, Susana ^c   Vilageliu, Lluisa ^c   Bayés, Mónica ^c   Chivelet, Pilar ^a   Besmond, Claude ^b   Goossens, Michel ^b   González Duarte, Roser ^c   Baiget, Montserrat ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b HENRI MONDOR HOSPITAL   (France)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYCLIC GMP; LEUCINE; PHOSPHODIESTERASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CODON; CONSANGUINITY; EXON; FEMALE; GENE MUTATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYDROLYSIS; PRIORITY JOURNAL; RETINA ROD; RETINITIS PIGMENTOSA;

3',5'-CYCLIC-GMP PHOSPHODIESTERASE; AMINO ACID SEQUENCE; ARGININE; BASE SEQUENCE; CODON; CONSANGUINITY; FEMALE; HUMANS; LEUCINE; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHOSPHORIC DIESTER HYDROLASES; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; RODS (RETINA);

EID: 13344250487     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

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