Clinical utility gene card for: Alport syndrome

European Journal of Human Genetics

Volumn 20, Issue 6, 2012, Pages 713-

  Hertz, Jens Michael ^a   Thomassen, Mads ^a   Storey, Helen ^b   Flinter, Frances ^b  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; COL4A5 PROTEIN, HUMAN; COLLAGEN TYPE 4;

ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; DIFFERENTIAL DIAGNOSIS; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC DISORDER; HUMAN; INCIDENCE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK ASSESSMENT; X CHROMOSOME LINKED DISORDER; GENETICS; NEPHRITIS;

COLLAGEN TYPE IV; HUMANS; NEPHRITIS, HEREDITARY;

EID: 84861197421     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.237     Document Type: Article

References (7)

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