Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

Pediatric Nephrology

Volumn 32, Issue 12, 2017, Pages 2273-2282

  Vivante, Asaf ^a,b   Ityel, Hadas ^a   Pode Shakked, Ben ^b,c   Chen, Jing ^a   Shril, Shirlee ^a   van der Ven, Amelie T ^a   Mann, Nina ^a   Schmidt, Johanna Magdalena ^a   Segel, Reeval ^d,e   Aran, Adi ^d,e   Zeharia, Avraham ^c,f   Staretz Chacham, Orna ^g   Bar Yosef, Omer ^b,c   Raas Rothschild, Annick ^c,h   Landau, Yuval E ^b,c   Lifton, Richard P ^i,j   Anikster, Yair ^b,c   Hildebrandt, Friedhelm ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b SHEBA MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d SHAARE ZEDEK MEDICAL CENTER   (Israel)

^e HEBREW UNIVERSITY   (Israel)

^f SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^g BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^h GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

ⁱ YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

Acute kidney injury; Monogenic diseases; Rhabdomyolysis; Whole exome sequencing

Indexed keywords

6 PHOSPHOFRUCTOKINASE ISOENZYME M; ADENOSYLHOMOCYSTEINASE; CARNITINE PALMITOYLTRANSFERASE; MYOSIN III; PHOSPHOGLYCERATE MUTASE; RYANODINE RECEPTOR 1; SODIUM CHANNEL NAV1.4;

ADOLESCENT; ADULT; AHCY GENE; ARAB; ARTICLE; CACNA1S GENE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CPT2 GENE; FATTY ACID METABOLISM; GENE; GENE IDENTIFICATION; GENE MUTATION; GLYCOGEN METABOLISM; HEREDITY; HUMAN; ISRAEL; JEW; MALE; METABOLIC DISORDER; MOLECULAR DIAGNOSIS; MUSCLE CONTRACTION; MUSCLE RELAXATION; MYH3 GENE; MYOPATHY; PATHOGENESIS; PEDIATRIC HOSPITAL; PFKM GENE; PGAM2 GENE; PRIORITY JOURNAL; PURINE METABOLISM; RHABDOMYOLYSIS; RYR1 GENE; SCN4A GENE; SKELETAL MUSCLE; TERTIARY CARE CENTER; WHOLE EXOME SEQUENCING; ETHNOLOGY; EXOME; GENETIC PREDISPOSITION; GENETICS; MUTATION; PROCEDURES;

ADOLESCENT; ADULT; ARABS; CHILD; EXOME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JEWS; MUTATION; RHABDOMYOLYSIS; WHOLE EXOME SEQUENCING;

EID: 85026804039     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-017-3755-8     Document Type: Article

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