Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect

American Journal of Medical Genetics

Volumn 135 A, Issue 1, 2005, Pages 47-52

  Hirayama Yamada, Kayoko ^a,b   Kamisago, Mitsuhiro ^a   Akimoto, Kaoru ^a   Aotsuka, Hiroyuki ^c   Nakamura, Yoshihide ^d   Tomita, Hideshi ^e   Furutani, Michiko ^a   Imamura, Shin Ichiro ^a   Takao, Atsuyoski ^a   Nakazawa, Makoto ^a   Matsuoka, Rumiko ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c CHIBA CHILDREN'S HOSPITAL   (Japan)

^d SUWA RED CROSS HOSPITAL   (Japan)

^e SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Atrial septal defect; Atrioventricular conduction disturbance; Congenital cardiovascular diseases; GATA4; NKX2.5

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATRIOVENTRICULAR BLOCK; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; DEXTROCARDIA; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GATA4 GENE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART ATRIUM SEPTUM DEFECT; HUMAN; MALE; MISSENSE MUTATION; NKX25 GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS;

DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; GATA4 TRANSCRIPTION FACTOR; HEART SEPTAL DEFECTS, ATRIAL; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVIEW LITERATURE; TRANSCRIPTION FACTORS;

EID: 20944442976     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30684     Document Type: Article

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