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Lupus, ISSN 0961-2033, 04/2016, Volume 25, Issue 5, pp. 479 - 485
Journal Article
Journal Article
Journal of Investigative Medicine, ISSN 1708-8267, 03/2015, Volume 63, Issue 3, pp. 554 - 557
Journal Article
European journal of ophthalmology, 09/2014, Volume 24, Issue 5, p. 814
Journal Article
European Journal of Ophthalmology, ISSN 1120-6721, 02/2014, Volume 24, Issue 5, pp. 814 - 817
Purpose: To report the phenotype of homozygous ABCA4 c.1937+1G>A splice-site variant associated with Stargardt disease. Methods: Two siblings, a 10-year-old... 
Macula | Retina | Dystrophy | Stargardt disease | ABCA4 gene | PATIENTS IDENTIFICATION | PROTEIN | RECESSIVE RETINITIS-PIGMENTOSA | PHENOTYPE | SPANISH PATIENTS | OPHTHALMOLOGY | MUTATIONS | SPECTRUM
Journal Article
Annals of Allergy, Asthma & Immunology, ISSN 1081-1206, 02/2009, Volume 102, Issue 2, pp. 168 - 169
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2001, Volume 38, Issue 12, p. 863
  FAP is also associated with a variety of extracolonic benign and malignant manifestations, including congenital hypertrophy of the retinal pigment epithelium... 
Proteins | Disease | Genes | Colorectal cancer | Families & family life | Mutation | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 1998, Volume 35, Issue 1, pp. 42 - 44
A locus for Peutz-Jeghers syndrome (PJS) was recently mapped to chromosome 19P13.3. Each of 12 families studied was compatible with linkage to the marker... 
19p13.3 | Peutz-Jeghers disease | Linkage | CHROMOSOME-6 | linkage | GENETICS & HEREDITY
Journal Article
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