Consultations in molecular diagnostics: Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping

Journal of Molecular Diagnostics

Volumn 12, Issue 1, 2010, Pages 125-131

  Fiskerstrand, Torunn ^a   Houge, Gunnar ^a   Sund, Staale ^b   Scheie, David ^c   Leh, Sabine ^a   Boman, Helge ^a   Knappskog, Per M ^a,d  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b Section for Rheumatology   (Norway)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

DINUCLEOTIDE; CALMODULIN BINDING PROTEIN; IQCB1 PROTEIN, HUMAN; KINESIN; NEPHROCYSTIN 3, HUMAN; NEPHROCYSTIN-3, HUMAN;

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 3; CHROMOSOME ARM; CINGULATE GYRUS; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; EXON; FEMALE; FETUS; GENE; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC CONSERVATION; GENETIC MARKER; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IQCB1 GENE; JOUBERT SYNDROME; KIDNEY DYSPLASIA; LIVER DISEASE; MALE; MECKEL SYNDROME; MICROARRAY ANALYSIS; MICROGYRIA; NPHP3 GENE; NUCLEOTIDE SEQUENCE; PANCREAS MALFORMATION; RENAL HEPATIC PANCREATIC DYSPLASIA; SENIOR LOKEN SYNDROME; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SITUS INVERSUS; SYNDROME; ABORTION; CHROMOSOME MAP; CONGENITAL MALFORMATION; DNA MICROARRAY; GENETIC SCREENING; GENETICS; HOMOZYGOTE; KIDNEY POLYCYSTIC DISEASE; LIVER; MULTIPLE MALFORMATION SYNDROME; MUTATION; NEWBORN; PANCREAS; PATHOLOGY; PREGNANCY;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; CALMODULIN-BINDING PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; FETUS; GENETIC TESTING; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; KINESIN; LIVER; MALE; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PANCREAS; POLYCYSTIC KIDNEY DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY;

EID: 77349112223     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2010.090033     Document Type: Article

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