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Volumn 79, Issue 6, 2011, Pages 691-
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The Case | Familial occurrence of retinitis pigmentosa, deafness, and nephropathy
a
SPEDALI CIVILI
(Italy)
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Author keywords
[No Author keywords available]
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Indexed keywords
ADULT;
CASE REPORT;
CHRONIC KIDNEY FAILURE;
CONGESTIVE CARDIOMYOPATHY;
CONGESTIVE HEART FAILURE;
ECHOCARDIOGRAPHY;
FAMILY;
FEMALE;
HAPLOTYPE;
HEARING IMPAIRMENT;
HEART MUSCLE BIOPSY;
HEART MUSCLE FIBROSIS;
HUMAN;
HUMAN TISSUE;
INSULIN RESISTANCE;
KIDNEY BIOPSY;
KIDNEY DISEASE;
KIDNEY FIBROSIS;
NOTE;
PERCEPTION DEAFNESS;
PRIORITY JOURNAL;
RETINITIS PIGMENTOSA;
ALSTROM SYNDROME;
ARTICLE;
BIOPSY;
GENETIC PREDISPOSITION;
GENETICS;
HEREDITY;
INTERSTITIAL NEPHRITIS;
MALE;
MIDDLE AGED;
MUTATION;
NUCLEOTIDE SEQUENCE;
PATHOLOGY;
PEDIGREE;
PHENOTYPE;
ALMS1 PROTEIN, HUMAN;
PROTEIN;
ADULT;
ALSTROM SYNDROME;
BIOPSY;
DNA MUTATIONAL ANALYSIS;
FEMALE;
GENETIC PREDISPOSITION TO DISEASE;
HAPLOTYPES;
HEREDITY;
HUMANS;
MALE;
MIDDLE AGED;
MUTATION;
NEPHRITIS, INTERSTITIAL;
PEDIGREE;
PHENOTYPE;
PROTEINS;
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EID: 79952148702
PISSN: 00852538
EISSN: 15231755
Source Type: Journal
DOI: 10.1038/ki.2010.514 Document Type: Article |
Times cited : (10)
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References (5)
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