A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing

Clinica Chimica Acta

Volumn 423, Issue , 2013, Pages 62-65

  Wang, Hui ^a   Sun, Yan ^b   Wu, Weiqing ^a   Wei, Xiaoming ^b   Lan, Zhangzhang ^b   Xie, Jiansheng ^a  

^a Shenzhen Key Laboratory for Birth Defects Prevention and Control   (China)

^b BGI SHENZHEN   (China)

Author keywords

FGFR3 gene; Hypochondroplasia; Missense mutation; Next generation sequencing

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3; GENOMIC DNA;

ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHINESE; CLINICAL FEATURE; COMP GENE; DATA ANALYSIS; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; ECHOGRAPHY; FEMALE; FETUS; FIBROBLAST GROWTH FACTOR RECEPTOR 3 GENE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GESTATIONAL AGE; HUMAN; HYPOCHONDROPLASIA; MEDICAL HISTORY; MICROARRAY ANALYSIS; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NEXT GENE SEQUENCING; PATIENT ASSESSMENT; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THERAPEUTIC ABORTION;

ADULT; AMINO ACID SEQUENCE; BONE AND BONES; CHINA; DWARFISM; FEMALE; FETUS; HUMANS; LIMB DEFORMITIES, CONGENITAL; LORDOSIS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 84877911338     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2013.04.015     Document Type: Article

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