New type of mutations in three spanish families with choroideremia

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 4, 2008, Pages 1315-1321

  Garcia Hoyos, Maria ^a   Lorda Sanchez, Isabel ^a   Gómez Garre, Pilar ^a   Villaverde, Cristina ^a   Cantalapiedra, Diego ^a   Bustamante, Ana ^a   Diego Alvarez, Dan ^a   Vallespin, Elena ^a   Gallego Merlo, Jesus ^a   Trujillo, Maria Jose ^a   Ramos, Carmen ^a   Ayuso, Carmen ^a  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

RAB PROTEIN; CHM PROTEIN, HUMAN; MESSENGER RNA; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ARTICLE; CHOROIDEREMIA; CHROMOSOMAL LOCALIZATION; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC CONSERVATION; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOTE; HUMAN; MALE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN INTERACTION; REP 1 GENE; X CHROMOSOME; CAUCASIAN; GENETICS; IMMUNOBLOTTING; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; SPAIN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BLOTTING, SOUTHERN; CHOROIDEREMIA; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HAPLOTYPES; HUMANS; IMMUNOBLOTTING; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RAB GTP-BINDING PROTEINS; RNA, MESSENGER; SPAIN;

EID: 45549095235     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-1169     Document Type: Article

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