New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

Clinical Genetics

Volumn 66, Issue 1, 2004, Pages 53-57

  Zerres, Klaus ^a   Senderek, J ^a   Rudnik Schoneborn S ^a   Eggermann, T ^a   Kunze, J ^b   Mononen, T ^c   Kaariainen H ^d   Kirfel, J ^e   Moser, M ^f   Buettner, R ^e   Bergmann, C ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

^d UNIVERSITY OF TURKU   (Finland)

^e UNIVERSITY OF BONN   (Germany)

^f MAX PLANCK INSTITUTE FOR BIOPHYSICAL CHEMISTRY   (Germany)

Author keywords

Autosomal recessive polycystic kidney disease; Mutational analysis; Prenatal diagnosis

Indexed keywords

CYTOSINE; FIBROCYSTIN; GENE PRODUCT; THYMINE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CHROMOSOME 6P; CHROMOSOME MAP; DIFFERENTIAL DIAGNOSIS; EXON; FETUS; GENE LOCUS; GENETIC HETEROGENEITY; HETEROZYGOSITY; HUMAN; KIDNEY POLYCYSTIC DISEASE; LINKAGE ANALYSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; FETUS; HUMANS; KIDNEY; MALE; POINT MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; PREGNANCY; PRENATAL DIAGNOSIS; PROTEINS; TRPP CATION CHANNELS;

EID: 3242705200     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00259.x     Document Type: Article

References (12)

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