Schimke immuno-osseous dysplasia: Expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype

Pediatric Research

Volumn 63, Issue 4, 2008, Pages 398-403

  Dekel, Benjamin ^a,c   Metsuyanim, Sally ^a   Goldstein, Nurit ^a   Pode Shakked, Naomi ^a,c   Kovalski, Yael ^b   Cohen, Yoram ^a   Davidovits, Miriam ^b   Anikster, Yair ^a,c  

^a SHEBA MEDICAL CENTER   (Israel)

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

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN SMARCAL1; PROTEIN SWI; TRANSCRIPTION FACTOR SNF; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY MALFORMATION; MALE; MUTATIONAL ANALYSIS; NONHUMAN; ORGAN CULTURE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RAT; RNA SPLICING; SCHIMKE IMMUNO OSSEOUS DYSPLASIA;

BONE DISEASES, DEVELOPMENTAL; CHILD; DNA HELICASES; GROWTH DISORDERS; HUMANS; KIDNEY; KIDNEY FAILURE; MALE; MUTATION; PEDIGREE; PHENOTYPE; RNA, MESSENGER;

EID: 41349106442     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/PDR.0b013e31816721cc     Document Type: Article

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