Alport syndrome and leiomyomatosis: The first deletion extending beyond COL4A6 intron 2

Pediatric Nephrology

Volumn 26, Issue 5, 2011, Pages 717-724

  Uliana, Vera ^a   Marcocci, Elena ^a   Mucciolo, Mafalda ^a   Meloni, Ilaria ^a   Izzi, Claudia ^b   Manno, Carlo ^c   Bruttini, Mirella ^a   Mari, Francesca ^a   Scolari, Francesco ^b   Renieri, Alessandra ^a   Salviati, Leonardo ^d  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

^c UNIVERSITY OF BARI   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

Author keywords

Alport syndrome; Array CGH; ATS DL; COL4A5; COL4A6; Diffuse leiomyomatosis; MLPA

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4A5; CREATININE; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; AGANGLIONOSIS; ALPORT SYNDROME; ARTICLE; CASE REPORT; CATARACT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONSTIPATION; CONTROLLED STUDY; CREATININE BLOOD LEVEL; CREATININE CLEARANCE; DYSPHAGIA; ESOPHAGUS ACHALASIA; EXON; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GASTROINTESTINAL MOTILITY DISORDER; GENE DELETION; GENE LOCUS; GENETIC COUNSELING; GENOTYPE; GYNECOLOGICAL EXAMINATION; HEARING TEST; HEMATURIA; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGIC SKIN REACTION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTROPHY; HYSTERECTOMY; IMMUNOHISTOCHEMISTRY; INTRON; KIDNEY BIOPSY; KIDNEY DISEASE; LEIOMYOMATOSIS; MALE; MEGAESOPHAGUS; MIXED HEARING LOSS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYOPIA; PEDIGREE ANALYSIS; PELVIC ORGAN PROLAPSE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEINURIA; RECTUM BIOPSY; RECTUM PROLAPSE; SCHOOL CHILD; SIGMOIDOSCOPY; SKIN CYST; URINALYSIS; UTERUS MYOMA; VOMITING;

ADULT; BASE SEQUENCE; CHILD; COLLAGEN TYPE IV; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; NEPHRITIS, HEREDITARY; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION; YOUNG ADULT;

EID: 79954444880     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-010-1693-9     Document Type: Article

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