作者：
Edgar Ricardo,Vázquez-Martínez [1]
;
Gustavo,Varela-Fascinetto [2]
;
Constanza,García-Delgado [3]
;
Benjamín Antonio,Rodríguez-Espino [4]
;
Adriana,Sánchez-Boiso [3]
;
Pedro,Valencia-Mayoral [5]
;
Solange,Heller-Rosseau [6]
;
Erika Lisselly,Pelcastre-Luna [7]
;
Juan C,Zenteno [8]
;
Marco,Cerbón [9]
;
Verónica Fabiola,Morán-Barroso [3]
作者单位：
Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México ; Department of Biology, Faculty of Chemistry, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México.
[1]
Department of Transplantation, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México.
[2]
Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México.
[3]
Department of Nephrology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México.
[4]
Department of Pathology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México.
[5]
Department of Gastroenterology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México.
[6]
Department of Biochemistry, Faculty of Medicine, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México.
[7]
Department of Biochemistry, Faculty of Medicine, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México ; Genetics Department and Research Unit, Institute of Ophthalmology "Conde de Valenciana", Chimalpopoca 14 Colonia Obrera, Delegación Cuauhtémoc, Distrito Federal C.P. 06800, México.
[8]
Department of Biology, Faculty of Chemistry, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México.
[9]
关键词
AA, African AmericanALGS, Alagille syndromeAlagille syndromeCEU, Utah Residents with Northern and Western European AncestryCHB, Han Chinese in Beijing, ChinaCI, confidence intervalDHPLC, Denaturing high performance liquid chromatographyDSL, Delta-Serrate-Lag2 domainEA, European AmericanESP, Exome Sequencing ProjectHGMD, The Human Gene Mutation DatabaseHWE, Hardy–Weinberg EquilibriumJAG1 mutationsJAG1, Gene coding for JAGGED1 proteinJPT, Japanese in Tokyo, JapanLOVD, Leiden Open Variation DatabaseMAF, minor allele frequencyMEX, Mexican populationMIM, Mendelian Inheritance in ManMexican patientsNA, not applicableND, not determinedNMD, Nonsense Mediated mRNA DecayNOTCH2, gene coding for NOTCH2 proteinOR, odds ratioPCR, polymerase chain reactionYRI, Yoruba in Ibadan, NigeriadbSNP, The Single Nucleotide Polymorphism Databasekb, kilobase(s) or 1000?bpmutDB, mutDB Polymorphism Database
DOI
10.1016/j.mgene.2013.10.002
PMID
25606387
发布时间
2020-10-01
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