Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: Two novel mutations in SLC4A11

Molecular Vision

Volumn 13, Issue , 2007, Pages 39-46

  Kumar, Arun ^a   Bhattacharjee, Soma ^a   Prakash, Durgappa Ravi ^b   Sadanand, Chethan Sitarampur ^b  

^a INDIAN INSTITUTE OF SCIENCE   (India)

^b Minto Ophthalmic Hospital   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE TRANSPORTER RELATED PROTEIN 1; CARRIER PROTEIN; DNA; MESSENGER RNA; MUTANT PROTEIN; PHENYLALANINE; SLC4A11 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CHROMOSOME 20P; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; DNA ISOLATION; DNA SEQUENCE; FAMILY; GENE DELETION; GENE INSERTION; GENE LOCUS; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; INDIAN; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN;

ANION TRANSPORT PROTEINS; ANTIPORTERS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHROMOSOME MAPPING; CORNEAL DYSTROPHIES, HEREDITARY; ENDOTHELIUM, CORNEAL; FEMALE; GENE DELETION; GENETIC SCREENING; HAPLOTYPES; HUMANS; INDIA; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN STRUCTURE, TERTIARY;

EID: 33846286488     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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