Choroideremia gene testing

Expert Review of Molecular Diagnostics

Volumn 4, Issue 4, 2004, Pages 478-484

  MacDonald, Ian M ^a   Sereda, Christina ^a   McTaggart, Kerry ^a   Mah, Dean ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Choroideremia; Immunoblot analysis; Mutation analysis; Rab escort protein 1

Indexed keywords

GERANYLGERANYLTRANSFERASE; GERANYLTRANSFERASE; RAB ESCORT PROTEIN 1; RAB PROTEIN; UNCLASSIFIED DRUG;

CHORIORETINOPATHY; CHOROIDEREMIA; CLINICAL GENETICS; DNA SPLICING; EXON; GENE DELETION; GENE INSERTION; GENE TECHNOLOGY; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; IMMUNOBLOTTING; INTRACELLULAR TRANSPORT; MASCULINITY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NORTHERN BLOTTING; RETINA DEGENERATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; SEQUENCE ANALYSIS; X CHROMOSOME RECESSIVE INHERITANCE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALKYL AND ARYL TRANSFERASES; AMINO ACID SEQUENCE; BASE SEQUENCE; CHOROIDEREMIA; DIAGNOSTIC TECHNIQUES AND PROCEDURES; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GTP PHOSPHOHYDROLASE ACTIVATORS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; RNA SPLICING;

EID: 3142718999     PISSN: 14737159     EISSN: None     Source Type: Journal    
DOI: 10.1586/14737159.4.4.478     Document Type: Review

References (20)

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