A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred

European Journal of Human Genetics

Volumn 22, Issue 3, 2014, Pages 419-422

  Mory, Adi ^a,b   Ruiz, Francesc X ^c   Dagan, Efrat ^b,d   Yakovtseva, Evgenia A ^c   Kurolap, Alina ^a   Parés, Xavier ^c   Farrés, Jaume ^c   Gershoni Baruch, Ruth ^a,b  

^a Institute of Human Genetics   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d UNIVERSITY OF HAIFA   (Israel)

Author keywords

ALDH1A3 gene; anophthalmia microphthalmia; homozogosity mapping

Indexed keywords

ALDEHYDE OXIDOREDUCTASES; AMINO ACID SEQUENCE; ANOPHTHALMOS; ARABS; FEMALE; HOMOZYGOTE; HUMANS; ISRAEL; MALE; MICROPHTHALMOS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

EID: 84894309585     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.157     Document Type: Article

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