Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy

European Journal of Human Genetics

Volumn 14, Issue 12, 2006, Pages 1269-1273

  Ducroq, Dominique ^a   Shalev, Stavit ^b   Habib, Aviv ^b   Munnich, Arnold ^a   Kaplan, Josseline ^a   Rozet, Jean Michel ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HAEMEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER 4; UNCLASSIFIED DRUG;

ADULT; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC SCREENING; HAPLOTYPE; HOMOZYGOSITY; HUMAN; ISRAEL; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; NUCLEAR FAMILY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINA CONE ROD DYSTROPHY; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; SEGREGATION ANALYSIS; STARGARDT DISEASE;

ATP-BINDING CASSETTE TRANSPORTERS; CHROMOSOME DISORDERS; CONSANGUINITY; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; RETINAL DEGENERATION; RETINITIS PIGMENTOSA;

EID: 33751311301     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201691     Document Type: Article

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