Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS)

Clinical Genetics

Volumn 76, Issue 4, 2009, Pages 409-412

  Scherber, E ^a   Beutel, K ^a   Ganschow, R ^a   Schulz, A ^b   Janka, G ^a   Stadt, U Zur ^a,c  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY HOSPITAL ULM   (Germany)

^c Research Institute   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; DNA; IMMUNOSUPPRESSIVE AGENT; LYSOSOMAL TRAFFICKING REGULATOR; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

AGAR GEL ELECTROPHORESIS; AUTOSOMAL RECESSIVE DISORDER; BLOOD ANALYSIS; BONE MARROW BIOPSY; BONE MARROW TRANSPLANTATION; CASE REPORT; CHEDIAK HIGASHI SYNDROME; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DNA ISOLATION; GENE MUTATION; GENETIC ANALYSIS; GRAFT FAILURE; GRAFT VERSUS HOST REACTION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HOMOZYGOSITY; HUMAN; LETTER; MALE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT INFECTION; SKIN INFECTION;

CHEDIAK-HIGASHI SYNDROME; HUMANS; INDEL MUTATION; INFANT; INFANT, NEWBORN; MALE; POLYMERASE CHAIN REACTION; VESICULAR TRANSPORT PROTEINS;

EID: 70350148356     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01205.x     Document Type: Letter

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