Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy

Cornea

Volumn 24, Issue 8, 2005, Pages 928-932

  Chen, Ying Ting ^a   Tseng, Sung Huei ^a   Chao, Sheau Chiou ^a  

^a NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

Author keywords

Helix initiation motif; Helix termination motif; Keratin 12; Keratin 3; KRT12 gene; KRT3 gene; Meesmann corneal dystrophy; Mutation analysis; Taiwanese

Indexed keywords

CYSTEINE; KERATIN; KERATIN 12; KERATIN 3; TYROSINE; UNCLASSIFIED DRUG;

ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CORNEA DYSTROPHY; EXON; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; HOMOZYGOSITY; HUMAN; INTRON; KRT12 GENE; KRT3 GENE; MALE; MEESMANN CORNEA DYSTROPHY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SEQUENCE ANALYSIS; SLIT LAMP; TAIWAN;

CHILD; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DNA; EXONS; GENOTYPE; HETEROZYGOTE; HUMANS; KERATIN-12; KERATIN-3; KERATINS; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TAIWAN;

EID: 28044471222     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ico.0000159732.29930.26     Document Type: Article

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