A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1

Human Genetics

Volumn 126, Issue 4, 2009, Pages 575-587

  Hmani Aifa, Mounira ^a,b   Ben Salem, Salma ^a   Ayadi, Hammadi ^a   Fakhfekh, Faïza ^b   Benzina, Zeineb ^c   Bouassida, Walid ^c   Turki, Khalil ^c   Messaoud, Riadh ^d   Khairallah, Moncef ^d   Rebaï, Ahmed ^a   Söderkvist, Peter ^e  

^a CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^b UNIVERSITY OF SFAX   (Tunisia)

^c HABIB BOURGUIBA HOSPITAL   (Tunisia)

^d FATTOUMA BOURGUIBA UNIVERSITY HOSPITAL   (Tunisia)

^e LINKÖPING UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

FRIZZLED PROTEIN; INWARDLY RECTIFYING POTASSIUM CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR7.1; MEMBRANE TYPE FRIZZLED RELATED PROTEIN; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; NICOTINIC RECEPTOR; NICOTINIC RECEPTOR DELTA; NICOTINIC RECEPTOR GAMMA; PHOSPHODIESTERASE; PHOSPHODIESTERASE 6 DELTA SUBUNIT; RETINA S ANTIGEN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CHX10; TRANSCRIPTION FACTOR OPA1; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 2Q; CONSANGUINITY; ELECTRORETINOGRAPHY; EYE REFRACTION; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MICROPHTHALMIA; OPHTHALMOLOGY; OPHTHALMOSCOPY; PRIORITY JOURNAL; RETINA FLUORESCEIN ANGIOGRAPHY; SINGLE NUCLEOTIDE POLYMORPHISM; TUNISIA; VISUAL ACUITY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CONSANGUINITY; FAMILY; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; MICROPHTHALMOS; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TUNISIA; YOUNG ADULT;

EID: 70350157113     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0688-8     Document Type: Article

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