MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome

Clinical Genetics

Volumn 74, Issue 6, 2008, Pages 522-530

  Hertz, Jens Michael ^a   Juncker, I ^a   Marcussen, N ^b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

5(IV); Alport syndrome; CDNA; COL4A5; COL4A6; MLPA

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 A5; COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; UNCLASSIFIED DRUG;

ALPORT SYNDROME; ARTICLE; CLINICAL ASSESSMENT TOOL; CONTROLLED STUDY; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE DELETION; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SKIN BIOPSY; SKIN FIBROBLAST; X CHROMOSOME LINKED DISORDER;

CELLS, CULTURED; COLLAGEN TYPE IV; DNA, COMPLEMENTARY; FEMALE; FIBROBLASTS; GENETIC TECHNIQUES; HUMANS; MALE; MUTATION; NEPHRITIS, HEREDITARY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE DELETION; SKIN;

EID: 56749096786     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01051.x     Document Type: Article

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