A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2

Nephrology Dialysis Transplantation

Volumn 21, Issue 11, 2006, Pages 3283-3286

  Matejas, Verena ^a   Al Gazali, Lihadh ^b   Amirlak, Iradj ^b   Zenker, Martin ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

Autosomal recessive; Blindness; Laminin; Nephrotic syndrome; Pierson syndrome

Indexed keywords

LAMININ; LAMININ BETA2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ANTERIOR EYE CHAMBER; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATARACT; CHILD; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DISEASE COURSE; FAMILY STUDY; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GLOMERULOPATHY; HETEROZYGOSITY; HUMAN; IRIS DISEASE; KIDNEY FAILURE; MALE; MUTATIONAL ANALYSIS; OBSERVATIONAL STUDY; ONSET AGE; PHENOTYPE; PIERSON SYNDROME; PREDICTION; PRIORITY JOURNAL; PROGENY; RETINA DETACHMENT; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; EYE ABNORMALITIES; FEMALE; HUMANS; LAMININ; MALE; MOLECULAR SEQUENCE DATA; NEPHROTIC SYNDROME; PEDIGREE; PHENOTYPE; VISION DISORDERS;

EID: 33750006320     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfl463     Document Type: Article

References (11)

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