The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease

American Journal of Human Genetics

Volumn 64, Issue 4, 1999, Pages 1024-1035

  Maugeri, Alessandra ^a   Van Driel, Marc A ^a   Van De Pol, Dorien J R ^a   Klevering, B Jeroen ^a   Van Haren, Frank J J ^a   Tijmes, Nel ^c   Bergen, Arthur A B ^c   Rohrschneider, Klaus ^c   Blankenagel, Anita ^c   Pinckers, Alfred J L G ^a   Dahl, Niklas ^b   Brunner, Han G ^a   Deutman, August F ^a   Hoyng, Carel B ^a   Cremers, Frans P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; GENE MUTATION; HUMAN; PHENOTYPE; PRIORITY JOURNAL; STARGARDT DISEASE; AMINO ACID SEQUENCE; CELL CULTURE; CHEMISTRY; CONGENITAL CORNEA DYSTROPHY; EUROPE; EXON; FOUNDER EFFECT; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INCIDENCE; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; RETINITIS PIGMENTOSA;

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN; MESSENGER RNA;

AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CELLS, CULTURED; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EUROPE; EXONS; FOUNDER EFFECT; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INCIDENCE; LINKAGE DISEQUILIBRIUM; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA; RNA, MESSENGER;

EID: 0033237315     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302323     Document Type: Article

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