Alport syndrome: Molecular genetic aspects

Danish Medical Bulletin

Volumn 56, Issue 3, 2009, Pages 105-152

  Hertz, Jens Michael ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA 5 CHAIN; COLLAGEN TYPE 4 ALPHA 6 CHAIN; GENOMIC DNA; UNCLASSIFIED DRUG; AUTOANTIGEN; COL4A4 PROTEIN, HUMAN; COL4A5 PROTEIN, HUMAN; TYPE IV COLLAGEN ALPHA3 CHAIN;

ALPORT SYNDROME; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; DNA PROBE; DOT HYBRIDIZATION; EXON; EYE DISEASE; FAMILY STUDY; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC COUNSELING; GENETIC MARKER; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; GEOGRAPHIC DISTRIBUTION; HEMATURIA; HETEROZYGOSITY; HUMAN; INTRON; KIDNEY FAILURE; LEIOMYOMATOSIS; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MISSENSE MUTATION; MOLECULAR CLONING; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PROGNOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; RNA SPLICING; SOUTHERN BLOTTING; X CHROMOSOME LINKED DISORDER; ADULT; ARTICLE; CHRONIC KIDNEY FAILURE; DNA SEQUENCE; FEMALE; GENETICS; HEARING IMPAIRMENT; MALE; MUTATION; NEPHRITIS; PEDIGREE; SEX DIFFERENCE;

ADULT; AUTOANTIGENS; COLLAGEN TYPE IV; DEAFNESS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; MUTATION; NEPHRITIS, HEREDITARY; PEDIGREE; SEQUENCE ANALYSIS, DNA; SEX FACTORS;

EID: 70449808041     PISSN: 16039629     EISSN: 16039629     Source Type: Journal    
DOI: None     Document Type: Review

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