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Blood. 2015 Mar 5;125(10):1674-6. doi: 10.1182/blood-2014-08-595397.

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.

Author information

1
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
2
Department of Pediatric Immunology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
3
Department of Pathology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
4
Department of Paediatrics, St. Anna Kinderspital and Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria.
5
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
6
Department of Pediatric Gastroenterology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
7
Division of Molecular Microbiology, Children's Cancer Research Institute, Vienna, Austria.
8
Department of Pediatrics, St. Anna Kinderspital and Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria.
9
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
PMID:
25745186
PMCID:
PMC4375718
DOI:
10.1182/blood-2014-08-595397
[Indexed for MEDLINE]
Free PMC Article

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