Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Human Genetics

Volumn 132, Issue 8, 2013, Pages 865-884

  Halbritter, Jan ^a   Porath, Jonathan D ^a   Diaz, Katrina A ^a   Braun, Daniela A ^a   Kohl, Stefan ^a   Chaki, Moumita ^a   Allen, Susan J ^a   Soliman, Neveen A ^b,c   Hildebrandt, Friedhelm ^a,d   Otto, Edgar A ^a  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b CAIRO UNIVERSITY   (Egypt)

^c Egyptian Group for Orphan Renal Diseases EGORD   (Egypt)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLIS FAMILY ZINC FINGER 2; INVERSIN; IQ MOTIF CONTAINING B1; MECKELIN; NEPHROCYSTIN 1; NEPHROCYSTIN 3; NEPHRORETININ; NIMA RELATED KINASE 8; NUCLEOTIDE; PROTEIN PRGRIP1 LIKE; SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 8; TETRATRICOPEPTIDE REPEAT DOMAIN 21B; TETRATRICOPEPTIDE REPEAT PROTEIN; UNCLASSIFIED DRUG; WD REPEAT DOMAIN 19;

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CAROLI DISEASE; CHILD; DNA DETERMINATION; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HIGH THROUGHPUT SCREENING; HUMAN; INFANT; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MULTIPLEX POLYMERASE CHAIN REACTION; NEPHRONOPHTHISIS; NEPHRONOPHTHISIS RELATED CILIOPATHY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CAROLI DISEASE; CILIA; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; MEMBRANE PROTEINS; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; PEDIGREE; PILOT PROJECTS; WORLD HEALTH;

EID: 84880916379     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1297-0     Document Type: Article

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