Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked Alport syndrome

Acta Genetica Sinica

Volumn 31, Issue 11, 2004, Pages 1190-1195

  Peng, Chun Long ^a,c   Liang, Hua ^b   Zou, Qing Ling ^b   Wang, Jing ^c   Liu, Chang Sheng ^b   Zhang, Xiao Feng ^c,d   Chen, Jie ^b   Hu, Song Nian ^c  

^a ZHEJIANG UNIVERSITY   (China)

^b THE SECOND AFFILIATED HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c Hangzhou Genomics Institute   (China)

^d ZHEJIANG UNIVERSITY   (China)

Author keywords

COL4A5 gene; Direct sequencing; Single base deletion mutation; X linked Alport syndrome

Indexed keywords

ADOLESCENT; ALPORT SYNDROME; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; COL4A5 GENE; DELETION MUTANT; EXON; FAMILY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; MALE; MOLECULAR CLONING; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; X CHROMOSOME LINKED DISORDER;

CHROMOSOMES, HUMAN, X; COLLAGEN TYPE IV; FEMALE; GENE DELETION; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; NEPHRITIS, HEREDITARY;

EID: 9444221963     PISSN: 03794172     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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