A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients

Gene

Volumn 561, Issue 1, 2015, Pages 165-169

  Tavira, Beatriz ^a   Gómez, Juan ^a   Málaga, Serafín ^a,b   Santos, Fernando ^a,b   Fernández Aracama, Javier ^a   Alonso, Belén ^a   Iglesias, Sara ^a   Benavides, Ana ^a   Hernando, Inés ^a   Plasencia, Ana ^a   Alvarez, Victoria ^a   Coto, Eliecer ^a,b,c,d  

^a HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^b UNIVERSITY OF OVIEDO   (Spain)

^c Instituto Carlos IIIFEDER   (Spain)

^d Fundacion Renal Lnigo Alvarez de Toledo   (Spain)

Author keywords

Genetic counseling; Ion Torrent sequencing; Next generation sequencing; PKHD1 gene; Polycystic kidney disease

Indexed keywords

DNA; FIBROCYSTIN; CELL SURFACE RECEPTOR; PKHD1 PROTEIN, HUMAN;

ARTICLE; CLINICAL ARTICLE; COST EFFECTIVENESS ANALYSIS; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYZER; GENETIC CODE; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; KIDNEY POLYCYSTIC DISEASE; MICROARRAY KIT; NEXT GENERATION SEQUENCING; PARENT; PRIORITY JOURNAL; DNA SEQUENCE; FEMALE; GENE LIBRARY; GENETICS; HIGH THROUGHPUT SEQUENCING; KIDNEY; MALE; MUTATION; NUCLEIC ACID AMPLIFICATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROCEDURES;

BASE SEQUENCE; FEMALE; GENE LIBRARY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KIDNEY; MALE; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYCYSTIC KIDNEY DISEASES; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA;

EID: 84924632673     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2015.02.040     Document Type: Article

References (16)

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