Autor: "Fung STH" - OpacWWW

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Tytuł:: The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Autorzy:: Yeung KS; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Yu FNY; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Fung CW; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Wong S; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Lee HHC; Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Fung STH; Department of Paediatrics, Kwong Wah Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Fung GPG; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Leung KY; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Chung WH; Department of Obstetrics and Gynaecology, United Christian Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Lee YT; Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Ng VKS; Department of Obstetrics and Gyanecology, Kwong Wah Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Yu MHC; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Fung JLF; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Tsang MHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Chan KYK; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong Special Administrative Region, Hong Kong, China.; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Chan SHS; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Kan ASY; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong Special Administrative Region, Hong Kong, China.; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jul; Vol. 8 (7), pp. e1229. Date of Electronic Publication: 2020 Apr 30.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Founder Effect*
Muscle Proteins/*genetics
Myopathies, Nemaline/*genetics
Aborted Fetus/pathology ; Adult ; China ; Female ; Haplotypes ; Homozygote ; Humans ; Infant, Newborn ; Myopathies, Nemaline/pathology ; Phenotype ; Point Mutation

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