Autosomal-dominant giant platelet syndromes: A hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13

Blood

Volumn 96, Issue 10, 2000, Pages 3447-3451

  Toren, A ^a   Rozenfeld Granot, G ^a   Rocca, B ^a   Epstein, C J ^a   Amariglio, N ^a   Laghi, F ^a   Landolfi, R ^a   Brok Simoni, F ^a   Carlsson, L E ^a   Rechavi, G ^a   Greinacher, A ^a  

^a SHEBA MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHEDIAK HIGASHI SYNDROME; CHROMOSOME 22Q; CLINICAL FEATURE; GENE MAPPING; GENETIC LINKAGE; GENETIC MARKER; GENETIC RECOMBINATION; HUMAN; NEPHROTIC SYNDROME; PRIORITY JOURNAL; THROMBOCYTE DISORDER;

EID: 0034669943     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.10.3447.h8003447_3447_3451     Document Type: Article

References (14)

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6. The inclusions of the May-Hegglin anomaly and Dohle bodies of infection: An ultrastructural comparison
7. Leukozyteneinschlusse bei scharlach
8. Hereditary macrothrombocytopenia, nephritis and deafness
9. Genetic linkage of autosomal dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13
10. Mapping of a gene for May-Hegglin anomaly to chromosome 22q
11. The gene for May-Hegglin anomaly localizes to a <1-MB region on chromosome 22q12.3-13.1
12. A simple salting out procedure for extracting DNA from human nucleated cells
13. Strategies for multilocus linkage analysis in humans
14. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2