Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family

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Vydané v:	Blood Ročník 101; s. 3492 - 3494
Hlavní autori:	Neerman Arbez, Marguerite, Vu, Dung, Abu-Libdeh, Bassam, Bouchardy, Isabelle, Morris, Michael Andréw
Médium:	Journal Article
Jazyk:	English Japanese
Vydavateľské údaje:	American Society of Hematology 01.05.2003
Predmet:	Abortion, Spontaneous Afibrinogenemia Afibrinogenemia/ diagnosis/embryology/genetics Amino Acid Sequence Amniocentesis Arabs Arabs/ genetics Codon Codon, Nonsense Codon/genetics Consanguinity DNA, Complementary DNA, Complementary/genetics Female Fetal Diseases Fetal Diseases/ diagnosis/genetics Fibrinogen Fibrinogen/chemistry/ genetics Genes, Recessive Genetic Predisposition to Disease Hemorrhagic Disorders Hemorrhagic Disorders/genetics Humans Infant, Newborn info:eu-repo/classification/ddc/616 Male Molecular Sequence Data Pedigree
ISSN:	0006-4971, 1528-0020
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Popis
ISSN:	0006-4971 1528-0020
DOI:	10.1182/blood-2002-10-3116