Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome

Blood

Volumn 95, Issue 3, 2000, Pages 979-983

  Certain, Stéphanie ^b   Barrat, Franck ^b   Pastural, Elodie ^b   Le Deist, Françoise ^b   Goyo Rivas, Jose ^b   Jabado, Nada ^b   Benkerrou, Malika ^b   Seger, Reinhard ^b   Vilmer, Etienne ^b   Beullier, Gilles ^b   Schwarz, Klaus ^b   Fischer, Alain ^b   De Saint Basile, Geneviève ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHEDIAK HIGASHI SYNDROME; CHILD; CLINICAL ARTICLE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REGULATOR GENE; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CHEDIAK-HIGASHI SYNDROME; CHILD; CHILD, PRESCHOOL; CODON; EPSTEIN-BARR VIRUS INFECTIONS; FEMALE; HUMANS; INFANT; LYMPHOPROLIFERATIVE DISORDERS; LYSOSOMES; MALE; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE DELETION; TERMINATOR REGIONS (GENETICS); VESICULAR TRANSPORT PROTEINS;

EID: 12944277163     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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