Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay

Genetic Testing

Volumn 12, Issue 4, 2008, Pages 533-536

  Cui, Ying Xia ^a   Xia, Xin Yi ^a   Bu, Ying ^b   Zhou, Guo Hua ^b   Yang, Bin ^a   Lu, Hong Yong ^a   Shi, Yi Chao ^a   Pan, Lian Jun ^a   Huang, Yu Feng ^a   Li, Xiao Jun ^a,c  

^a JINLING HOSPITAL   (China)

^b HUADONG RESEARCH INSTITUTE FOR MEDICINE AND BIOTECHNICS   (China)

^c NANJING UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; DNA;

AMNIOTIC FLUID CELL; ARTICLE; BONE DYSPLASIA; BONE GROWTH; CASE REPORT; CHROMOSOME 12Q; COL2A1 GENE; FETUS; FETUS ECHOGRAPHY; GENE; GENE MAPPING; GENE MUTATION; GENETIC COUNSELING; GESTATIONAL AGE; HUMAN; MALE; POLYMERASE CHAIN REACTION; POLYMERASE CHAIN REACTION SEQUENCE SPECIFIC PRIMER ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS; SPONDYLOEPIPHYSEAL DYSPLASIA;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; COLLAGEN TYPE II; DNA PRIMERS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; OSTEOCHONDRODYSPLASIAS; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; YOUNG ADULT;

EID: 57749097032     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0037     Document Type: Article

References (17)

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