FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia

Journal of Human Genetics

Volumn 55, Issue 12, 2010, Pages 844-846

  Kunishima, Shinji ^a   Ito Yamamura, Yoshimi ^a   Hayakawa, Akira ^b   Yamamoto, Toshimichi ^c   Saito, Hidehiko ^d  

^a NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^b KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d NAGOYA CENTRAL HOSPITAL   (Japan)

Author keywords

FLNA; macrothrombocytopenia; p.V528M; periventricular heterotopia

Indexed keywords

FILAMIN A;

ARTICLE; BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA; CASE REPORT; CHILD; CHROMOSOME SUBSTITUTION; DNA POLYMORPHISM; FAMILY HISTORY; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MALE; PERIVENTRICULAR HETEROTOPIA; PHYLOGENETIC TREE; PRESCHOOL CHILD; THROMBOCYTOPENIA; X CHROMOSOME LINKED DISORDER;

ADULT; AMINO ACID SUBSTITUTION; BERNARD-SOULIER SYNDROME; CHILD; CHILD, PRESCHOOL; CONTRACTILE PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MICROFILAMENT PROTEINS; PEDIGREE; PERIVENTRICULAR NODULAR HETEROTOPIA; THROMBOCYTOPENIA;

EID: 78650528076     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.114     Document Type: Article

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