A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Xia, Xin Yi ^a   Li, Na ^a   Cao, Xiang ^a   Wu, Qiu Yue ^a   Li, Tian Fu ^a   Zhang, Cui ^a   Li, Wei Wei ^a   Cui, Ying Xia ^a   Li, Xiao Jun ^a   Xue, Chun Yan ^a  

^a MEDICAL SCHOOL OF NANJING UNIVERSITY   (China)

Author keywords

COL4A1; Non syndromic congenital cataract; Type IV collagen

Indexed keywords

ALANINE; COLLAGEN TYPE 4; COLLAGEN TYPE IV ALPHA 1; COLLAGEN TYPE IV ALPHA 2; GLYCINE; ING PROTEIN; IRS2 PROTEIN; LIG6 PROTEIN; MYR8 PROTEIN; PROTEIN; RESTRICTION ENDONUCLEASE; RESTRICTION ENDONUCLEASE PVUII; UNCLASSIFIED DRUG; COL4A1 PROTEIN, HUMAN; MICROSATELLITE DNA;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL DOMINANT NON SYNDROMIC CONGENITAL CATARACT; BLURRED VISION; BRAIN HEMORRHAGE; BRAIN RADIOGRAPHY; CATARACT; CHINA; CHINESE; CHROMOSOME; CHROMOSOME 13Q; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; DENTITION; DIABETES MELLITUS; EXON; FACIES; GENE MUTATION; GENETIC COUNSELING; GENETIC LINKAGE; GENOTYPE; GLOMERULOPATHY; HUMAN; KIDNEY FUNCTION; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PORENCEPHALY; PUPIL; SEQUENCE ANALYSIS; SLIT LAMP; SPORADIC INTRACEREBRAL HEMORRHAGE; TURBIDITY; ASIAN; CHROMOSOME 13; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; GENETICS; MALE; MOLECULAR EVOLUTION; PATHOLOGY; PEDIGREE;

ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CHROMOSOMES, HUMAN, PAIR 13; COLLAGEN TYPE IV; EVOLUTION, MOLECULAR; EXONS; FEMALE; GENETIC VARIATION; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MICROSATELLITE REPEATS; PEDIGREE; SEQUENCE ANALYSIS;

EID: 84910047260     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-014-0097-2     Document Type: Article

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