Novel LMX1B mutation in familial nail-patella syndrome with variable expression to open angle glaucoma

Molecular Vision

Volumn 13, Issue , 2007, Pages 639-648

  Millá, Elena ^a   Hernan, Imma ^b   Gamundi, María José ^b   Martínez Gimeno, Maria ^b   Carballo, Miguel ^b  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL DE TERRASSA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIHYPERTENSIVE AGENT; PROSTAGLANDIN DERIVATIVE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LMX1B; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE SEVERITY; EXON; EYE EXAMINATION; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; GLAUCOMA; HUMAN; INTRAOCULAR HYPERTENSION; MALE; MUTATIONAL ANALYSIS; NAIL PATELLA SYNDROME; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; OPTIC DISK; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RETINA NERVE CELL; SCHOOL CHILD; SEQUENCE ANALYSIS; SPAIN;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CODON, TERMINATOR; FEMALE; FRAMESHIFT MUTATION; GLAUCOMA, OPEN-ANGLE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION; NAIL-PATELLA SYNDROME; OCULAR HYPERTENSION; RETINA; TOMOGRAPHY, OPTICAL COHERENCE; TRANSCRIPTION FACTORS;

EID: 34248183058     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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