A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans

Nature Medicine

Volumn 15, Issue 3, 2009, Pages 313-318

  Malinin, Nikolay L ^a   Zhang, Li ^b   Choi, Jeongsuk ^a   Ciocea, Alieta ^a   Razorenova, Olga ^a   Ma, Yan Qing ^a   Podrez, Eugene A ^a   Tosi, Michael ^c   Lennon, Donald P ^d   Caplan, Arnold I ^d   Shurin, Susan B ^e   Plow, Edward F ^a   Byzova, Tatiana V ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; DIACYLGLYCEROL DERIVATIVE; DIACYLGLYCEROL REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; INTEGRIN; RAS PROTEIN; UNCLASSIFIED DRUG;

ALBERS SCHOENBERG DISEASE; ARTICLE; BLEEDING; CELL ISOLATION; CODING; CONTROLLED STUDY; GENETIC ANALYSIS; GENETIC DISORDER; HEMATOPOIETIC CELL; HUMAN; HUMAN CELL; INFECTION; KINDLIN3 GENE; LEUKOCYTE ADHESION DEFICIENCY; LYMPHOID CELL LINE; MOUSE; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIBLING; SYMPTOM; THROMBOCYTE; WILD TYPE;

BONE MARROW TRANSPLANTATION; CELL LINE, TRANSFORMED; HUMANS; INTEGRINS; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; MEMBRANE PROTEINS; NEOPLASM PROTEINS; POINT MUTATION;

EID: 61949240364     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm.1917     Document Type: Article

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