A new point mutation in the COL4A5 gene described in a Spanish family with X-linked Alport syndrome

Nephron

Volumn 90, Issue 4, 2002, Pages 455-459

  Palenzuela, Lluís ^a   Callís, Lluís M ^a   Vilalta, Ramon ^a   Vila, Ángel ^a   Nieto, José L ^a   Meseguer, Anna ^a  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Alport syndrome; COL4A5 mutation; Collagenous domain; Exon 25; Linkage analysis

Indexed keywords

COLLAGEN TYPE 4; LEUCINE; NUCLEOTIDE; POLYPEPTIDE; PROLINE;

ADULT; AGED; ALLELE; ALPORT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HYDROXYLATION; MALE; MUTATIONAL ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN STABILITY; SPAIN; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; NEPHRITIS, HEREDITARY; PEDIGREE; PHENOTYPE; POINT MUTATION; SPAIN; X CHROMOSOME;

EID: 0036222902     PISSN: 00282766     EISSN: None     Source Type: Journal    
DOI: 10.1159/000054734     Document Type: Article

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