A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy

Clinical and Experimental Dermatology

Volumn 34, Issue 1, 2009, Pages 68-73

  Jelani, M ^a   Salman Chishti, M ^a   Ahmad, W ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CDH3 GENE; CHROMOSOME 16Q; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC LINKAGE; HUMAN; HYPOTRICHOSIS; MALE; MARKER GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RNA SPLICING; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CADHERINS; CHILD; CONSANGUINITY; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; HYPOTRICHOSIS; INFANT; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MUTATION; PAKISTAN; PEDIGREE; YOUNG ADULT;

EID: 57349094003     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2008.02933.x     Document Type: Article

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