Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations

Blood Cells, Molecules, and Diseases

Volumn 57, Issue , 2016, Pages 81-84

  Shanbhag, Sharda ^a   Ghosh, Kanjaksha ^a   Shetty, Shrimati ^a  

^a KEM HOSPITAL   (India)

Author keywords

Factor XIIIA deficiency; Genetic diagnosis; India; Novel mutations; Rare bleeding disorder

Indexed keywords

BLOOD CLOTTING FACTOR 13; PROTEIN SUBUNIT;

ADOLESCENT; ADULT; ARTICLE; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; FACTOR XIII A GENE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; INDIAN; INFANT; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; BLOOD; DNA MUTATIONAL ANALYSIS; FACTOR XIII DEFICIENCY; GENE EXPRESSION; GENETICS; GENOTYPE; INDIA; METABOLISM; MUTATION; NEWBORN; PHENOTYPE; PROTEIN SUBUNIT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FACTOR XIII; FACTOR XIII DEFICIENCY; FEMALE; GENE EXPRESSION; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INDIA; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PROTEIN SUBUNITS;

EID: 84959185301     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2016.01.002     Document Type: Article

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