Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene

Cornea

Volumn 29, Issue 3, 2010, Pages 302-306

  Mehta, Jodhbir Singh ^a,b   Hemadevi, Boomiraj ^c   Vithana, Eranga N ^b   Arunkumar, Jambulingam ^e   Srinivasan, Muthaiah ^e   Prajna, Venkatesh ^e   Tan, Donald T ^a,b,d   Aung, Tin ^a,b,d   Sundaresan, Periasamy ^c  

^a SINGAPORE NATIONAL EYE CENTRE   (Singapore)

^b SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^c ARAVIND MEDICAL RESEARCH FOUNDATION   (India)

^d NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^e Aravind Eye Hospitals   (India)

Author keywords

CHED; Harboyan Syndrome; PCR; Penetrating Keratoplasty; SLC4A11

Indexed keywords

GENOMIC DNA; PROTEIN; SLC4A11 PROTEIN; UNCLASSIFIED DRUG;

AUDIOMETRY; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONGENITAL CORNEA DYSTROPHY; CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY; CONTROLLED STUDY; CORNEA; CORNEA ENDOTHELIUM; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HEARING LOSS; HUMAN; INTRAOCULAR PRESSURE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; OPHTHALMOSCOPY; PEDIGREE; PENETRATING KERATOPLASTY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; REVIEW; SLIT LAMP; VISUAL ACUITY;

ADOLESCENT; ANION TRANSPORT PROTEINS; ANTIPORTERS; AUDIOMETRY; CHILD; CHILD, PRESCHOOL; CORNEAL DYSTROPHIES, HEREDITARY; ENDOTHELIUM, CORNEAL; FEMALE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; KERATOPLASTY, PENETRATING; MALE; MUTATION; PEDIGREE; PHENOTYPE; RETROSPECTIVE STUDIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 77649128155     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICO.0b013e3181ae9038     Document Type: Review

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