Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy

Molecular Vision

Volumn 13, Issue , 2007, Pages 1327-1332

  Sultana, Afia ^a   Garg, Prashant ^a   Ramamurthy, Balasubramanya ^a   Vemuganti, Geeta K ^a   Kannabiran, Chitra ^a  

^a L V PRASAD EYE INSTITUTE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SODIUM BICARBONATE TRANSPORTER LIKE SOLUTE CARRIER FAMILY 4 MEMBER 11; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL COUNT; CHILD; CHROMOSOME 20P; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CORNEA THICKNESS; DESCEMET MEMBRANE; DNA SEQUENCE; ENDOTHELIUM CELL; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENETIC CORRELATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL ACUITY;

ADOLESCENT; ADULT; ANION TRANSPORT PROTEINS; ANTIPORTERS; CHILD; CHILD, PRESCHOOL; CORNEAL DYSTROPHIES, HEREDITARY; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MUTATION; PHENOTYPE;

EID: 34547425743     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

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