CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia

American Journal of Medical Genetics, Part A

Volumn 149, Issue 10, 2009, Pages 2134-2140

  Perez Cano, Hector J ^a   Garnica hayashi, Rosa E ^a   Zenteno, Juan C ^a  

^a INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

Author keywords

CHM; Choroideremia; Female carrier; REP1; Retinal dystrophy; X inactivation

Indexed keywords

ANDROGEN RECEPTOR; GENOMIC DNA; RAB ESCORT PROTEIN 1; RAB PROTEIN; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; CHILD; CHM GENE; CHOROIDEREMIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; ELECTRORETINOGRAPHY; FEMALE; GENE FUNCTION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MALE; MEXICO; NONSENSE MUTATION; OPHTHALMOSCOPY; PRIORITY JOURNAL; PROTEIN FUNCTION; RECESSIVE GENE; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA MALFORMATION; SCHOOL CHILD; X CHROMOSOME INACTIVATION; X CHROMOSOME RECESSIVE INHERITANCE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; CHILD; CHOROIDEREMIA; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; VISUAL ACUITY; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 70349498495     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32727     Document Type: Article

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