Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

European Journal of Human Genetics

Volumn 21, Issue 9, 2013, Pages 957-964

  Reddy, Ramesh ^a,b   Akoury, Elie ^a,b   Phuong Nguyen, Ngoc Minh ^a,b   Abdul Rahman, Omar A ^c   Dery, Christine ^a,b   Gupta, Neerja ^d   Daley, William P ^c   Ao, Asangla ^b   Landolsi, Hanene ^e   Ann Fisher, Rosemary ^f   Touitou, Isabelle ^g   Slim, Rima ^a,b  

^a MONTREAL GENERAL HOSPITAL   (Canada)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^d ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^e SAHLOUL UNIVERSITY HOSPITAL   (Tunisia)

^f IMPERIAL COLLEGE LONDON   (United Kingdom)

^g INSERM   (France)

Author keywords

4 bp deletion; colocalization; diploid biparental hydatidiform mole; KHDC3L; NLRP7

Indexed keywords

KH DOMAIN CONTAINING 3 LIKE; NLR FAMILY PYRIN DOMAIN CONTAINING 7; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DIPLOIDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; HAPLOTYPE; HEMATOPOIETIC CELL; HUMAN; HUMAN TISSUE; HYDATIDIFORM MOLE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN LOCALIZATION;

ABORTION, SPONTANEOUS; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BASE SEQUENCE; CASE-CONTROL STUDIES; CHORIONIC VILLI; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HAPLOTYPES; HEK293 CELLS; HUMANS; HYDATIDIFORM MOLE; MALE; PEDIGREE; PREGNANCY; PREGNANCY OUTCOME; PROTEIN TRANSPORT; PROTEINS; SEQUENCE DELETION; UTERINE NEOPLASMS;

EID: 84882451126     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.274     Document Type: Article

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