Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

Journal of Clinical Immunology

Volumn 34, Issue 6, 2014, Pages 607-610

  Agarwal, Niti Sardana ^a   Northrop, Lesley ^a   Anyane Yeboa, Kwame ^a   Aggarwal, Vimla S ^a   Nagy, Peter L ^a   Demirdag, Yesim Yilmaz ^a  

^a Department of Medicine   (United States)

Author keywords

combined immunodeficiency; intestinal atresia; Multiple intestinal atresia; TTC7A mutation

Indexed keywords

PROTEIN; TTC7A PROTEIN, HUMAN;

ADULT; CASE REPORT; COMPLICATION; FEMALE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; INTESTINAL ATRESIA; INTESTINE MUCOSA; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; SEPSIS; SEVERE COMBINED IMMUNODEFICIENCY;

ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT, NEWBORN; INTESTINAL ATRESIA; INTESTINAL MUCOSA; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, GENETIC; PROTEINS; SEPSIS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84939878234     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0067-7     Document Type: Article

References (6)

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