Posterior microphthalmia and nanophthalmia in tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene

Gene

Volumn 528, Issue 2, 2013, Pages 288-294

  Said, Mariem Ben ^a   Chouchène, Ebtissem ^b   Salem, Salma Ben ^a   Daoud, Kods ^a   Largueche, Leila ^b   Bouassida, Walid ^c   Benzina, Zeineb ^c   Ayadi, Hammadi ^a   Söderkvist, Peter ^d   Matri, Leila ^b   Hmani Aifa, Mounira ^a  

^a CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^b Institut Hedi Rais d'Ophtalmologie   (Tunisia)

^c HABIB BOURGUIBA HOSPITAL   (Tunisia)

^d LINKÖPING UNIVERSITY   (Sweden)

Author keywords

Founder effect; Microarray; Microphthalmia; Nanophthalmia; PRSS56; Tunisia

Indexed keywords

ADULT; ARTICLE; CHROMOSOME ABERRATION; CONSANGUINITY; FEMALE; FOUNDER EFFECT; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MICROPHTHALMIA; NANOPHTHALMIA; POSTERIOR MICROPHTHALMIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUNISIA;

A; ANOPHTHALMIA; BASE PAIR; BP; CMIC; CONGENITAL MICROPHTHALMIA; DEOXYRIBONUCLEIC ACID; DNA; FOUNDER EFFECT; H; HOUR; KB; KILOBASE; MEMBRANE FRIZZLED-RELATED PROTEIN; MFRP; MICROARRAY; MICROPHTHALMIA; NANOGRAM; NANOPHTHALMIA; NG; PCR; PM; POLYMERASE CHAIN REACTION; POSTERIOR MICROPHTHALMIA; PRSS56; SERINE PROTEASE 56; SINGLE NUCLEOTIDE POLYMORPHISM; SNP; TUNISIA;

ADULT; AGED; BASE SEQUENCE; CONSANGUINITY; FEMALE; FOUNDER EFFECT; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; MALE; MICROPHTHALMOS; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SERINE PROTEASES; TUNISIA;

EID: 84883051452     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.045     Document Type: Article

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