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Pediatric Nephrology

Volumn 16, Issue 7, 2001, Pages 550-553

Branchio-oto-renal syndrome: Identification of a novel mutation in the EYA1 gene

(4) Rodriguez Soriano J a Vallo, A a Bilbao, J R a Castano L a

a HOSPITAL DE CRUCES (Spain)

Author keywords

Branchio oto renal syndrome; Chronic renal failure; EYA1 gene; Renal anomalies; Renal hypoplasia

Indexed keywords

EYA 1 PROTEIN; GENE PRODUCT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRANCHIOGENIC CYST; BRANCHIOOTORENAL SYNDROME; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DROSOPHILA; EXON; EXTERNAL EAR MALFORMATION; EYE; FAMILY; FEMALE; FISTULA; GENE MUTATION; GENETIC HETEROGENEITY; HEARING LOSS; HEMODIALYSIS; HUMAN; KIDNEY FAILURE; KIDNEY MALFORMATION; MALE; MEDICAL LITERATURE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

BRANCHIO-OTO-RENAL SYNDROME; CHILD; DNA; EXONS; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; KIDNEY; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PROTEIN-TYROSINE-PHOSPHATASE; TRANS-ACTIVATORS;

EID: 0034958372 PISSN: 0931041X EISSN: None Source Type: Journal
DOI: 10.1007/s004670100603 Document Type: Article

Times cited : (18)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.