Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy

Journal of Human Genetics

Volumn 59, Issue 8, 2014, Pages 444-453

  Soumittra, Nagasamy ^a   Loganathan, Sampath K ^b   Madhavan, Dharanija ^a   Ramprasad, Vedam L ^a   Arokiasamy, Tharigopala ^a   Sumathi, Sundaram ^a   Karthiyayini, Thirumalai ^a   Rachapalli, Sudhir R ^c   Kumaramanickavel, Govindasamy ^a   Casey, Joseph R ^b   Rajagopal, Rama ^c  

^a VISION RESEARCH FOUNDATION   (India)

^b UNIVERSITY OF ALBERTA   (Canada)

^c MEDICAL RESEARCH FOUNDATION   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL SURFACE; CLINICAL ARTICLE; COL8A2 GENE; CONTROLLED STUDY; CORNEA DYSTROPHY; ENDOPLASMIC RETICULUM; EXON; FEMALE; FUCHS ENDOTHELIAL CORNEAL DYSTROPHY; GENE; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HEK293 CELL LINE; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MALE; MIDDLE AGED; MISSENSE MUTATION; PATHOGENESIS; SLC4A11 GENE; ANIMAL; COHORT ANALYSIS; CONGENITAL CORNEA DYSTROPHY; GENETICS; METABOLISM; PROTEIN TRANSPORT; VERY ELDERLY; YOUNG ADULT;

ANION TRANSPORT PROTEIN; ANTIPORTER; COL8A2 PROTEIN, HUMAN; COLLAGEN TYPE 8; SLC4A11 PROTEIN, HUMAN;

ADULT; AGED; AGED, 80 AND OVER; ANIMALS; ANION TRANSPORT PROTEINS; ANTIPORTERS; COHORT STUDIES; COLLAGEN TYPE VIII; ENDOPLASMIC RETICULUM; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENETIC HETEROGENEITY; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PROTEIN TRANSPORT; YOUNG ADULT;

EID: 84906683036     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.55     Document Type: Article

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