Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients

Clinical Endocrinology

Volumn 80, Issue 4, 2014, Pages 524-531

  Lu, Yanqin ^a,b   Ren, Xiuzhi ^c   Wang, Yanzhou ^d   Li, Tianyou ^d   Li, Fuhui ^b   Wang, Shifu ^e   Xu, Chao ^a,b   Wu, Guohua ^f   Li, Hu ^a,b   Li, Gongchao ^a   Zhao, Fei ^a,b   Wang, Ziqiang ^a,b   Mo, Xinkai ^a,b   Han, Jinxiang ^a,b  

^a BEIJING HOSPITAL   (China)

^b UNIVERSITY OF JINAN   (China)

^c Wuqing People's Hospital   (China)

^d SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

^e QILU CHILDREN S HOSPITAL OF SHANDONG UNIVERSITY   (China)

^f Department of Paediatric Surgery Langfang Red Cross Orthopedics Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

C PROPEPTIDE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CHINESE; COL1A1 GENE; COMPUTER MODEL; DISEASE SEVERITY; DISULFIDE BOND; DNA SEQUENCE; FEMALE; FETUS; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HISTOLOGY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; NUCLEOTIDE SEQUENCE; OSTEOCYTE; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN STRUCTURE; RNA SPLICING; SCHOOL CHILD;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; COLLAGEN TYPE I; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA; PHENOTYPE;

EID: 84895926761     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12354     Document Type: Article

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