Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia

Molecular Vision

Volumn 14, Issue , 2008, Pages 583-592

  Zhou, Jie ^a   Kherani, Femida ^a   Bardakjian, Tanya M ^b   Katowitz, James ^a   Hughes, Nkecha ^a   Schimmenti, Lisa A ^c   Schneider, Adele ^b   Young, Terri L ^a,d  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b ALBERT EINSTEIN MEDICAL CENTER   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; DNA; GLUTAMIC ACID; GLYCINE; SERINE; THREONINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CHX10; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ANOPHTHALMIA; ARTICLE; BINDING SITE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA BINDING; DNA DETERMINATION; FRAMESHIFT MUTATION; GEL ELECTROPHORESIS; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MICROPHTHALMIA; NUCLEIC ACID BASE SUBSTITUTION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

ADOLESCENT; ANOPHTHALMOS; CHILD; COHORT STUDIES; DNA-BINDING PROTEINS; FEMALE; HETEROZYGOTE; HMGB PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICROPHTHALMOS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS; VARIATION (GENETICS);

EID: 42349085980     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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