C.194 a>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma

Molecular Vision

Volumn 17, Issue , 2011, Pages 1929-1939

  Romero, Pablo ^a,b   Sanhueza, Felipe ^c   Lopez, Pamela ^d   Reyes, Loreto ^e   Herrera, Luisa ^d  

^a HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

^b HOSPITAL DEL SALVADOR   (Chile)

^c Servicio de Urgencia   (Chile)

^d UNIVERSITY OF CHILE   (Chile)

^e HOSPITAL DR SÓTERO DEL RÍO   (Chile)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GONIOSCOPY; HETEROZYGOSITY; HUMAN; INTRAOCULAR HYPERTENSION; KIDNEY FUNCTION; LMX1B GENE; MALE; MISSENSE MUTATION; NAIL PATELLA SYNDROME; OPEN ANGLE GLAUCOMA; OPTIC DISK; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINA NERVE CELL; SLIT LAMP; THICKNESS; VISUAL ACUITY; VISUAL FIELD;

ADULT; AGE OF ONSET; BASE SEQUENCE; CHILE; DNA; DNA MUTATIONAL ANALYSIS; EXONS; EYE; FEMALE; GLAUCOMA, OPEN-ANGLE; HETEROZYGOTE; HUMANS; LIM-HOMEODOMAIN PROTEINS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NAIL-PATELLA SYNDROME; NERVE FIBERS; OCULAR HYPERTENSION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS; VISION TESTS;

EID: 79960732062     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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