Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract

Turkish Journal of Pediatrics

Volumn 49, Issue 3, 2007, Pages 334-336

  Miyamoto, Toshinobu ^a   Yu, Young S ^b   Sato, Hisashi ^a   Hayashi, Hiroaki ^a   Sakugawa, Naoko ^a   Ishikawa, Mutsuo ^a   Sengoku, Kazuo ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

^b Seoul National University Children's Hospital   (South Korea)

Author keywords

Congenital cataract; MBX; Microphthalmia; Mutational analysis

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; HOMEODOMAIN PROTEIN; NUCLEOTIDE; PROTEIN MBX; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; CONGENITAL CATARACT; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILY; GENETIC ASSOCIATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HOMOZYGOSITY; HUMAN; INTRON; KOREA; MICROPHTHALMIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; POLYMERASE CHAIN REACTION;

CATARACT; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KOREA; MALE; MICROPHTHALMOS; MUTATION; OTX TRANSCRIPTION FACTORS; PEDIGREE;

EID: 35248818836     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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