Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy

Prenatal Diagnosis

Volumn 20, Issue 11, 2000, Pages 876-880

  Ries, Liat ^a   Frydman, Moshe ^a   Barkai, Gad ^a   Goldman, Boleslaw ^a   Friedman, Eitan ^a  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

Author keywords

CVS; DGGE; Genetic counselling; Mutation detection; Osteogenesis imperfecta; Prenatal diagnosis

Indexed keywords

ANEUPLOIDY; ARTICLE; CASE REPORT; CHORION VILLUS; DISEASE COURSE; FAMILIAL DISEASE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HUMAN; KARYOTYPE; MALE; OSTEOGENESIS IMPERFECTA; PATIENT EDUCATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; CHORIONIC VILLI SAMPLING; COLLAGEN; COLLAGEN TYPE I; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; FETAL DISEASES; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; OSTEOGENESIS IMPERFECTA; POINT MUTATION; PREGNANCY;

EID: 0033653625     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200011)20:11<876::AID-PD936>3.0.CO;2-X     Document Type: Article

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