Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene

Experimental Hematology

Volumn 34, Issue 11, 2006, Pages 1517-1521

  Erdos, Melinda ^a   Alapi, Krisztina ^a   Balogh, István ^a   Oroszlán, György ^b   Rákóczi, Éva ^a   Sümegi, János ^a,c   Maródi, László ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b Markusovszky University Teaching Hospital   (Hungary)

^c UNIVERSITY OF CINCINNATI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; DENSITOMETRY; DISEASE COURSE; DISEASE SEVERITY; EXON; GENE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; INFANT; LABORATORY TEST; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STABILITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SBDS GENE; SHWACHMAN SYNDROME; SITE DIRECTED MUTAGENESIS; WESTERN BLOTTING; WILD TYPE;

ANIMALS; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; COS CELLS; DIARRHEA; EXOCRINE PANCREATIC INSUFFICIENCY; EXONS; FAILURE TO THRIVE; GENE EXPRESSION REGULATION; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PANCYTOPENIA; PEDIGREE; PHENOTYPE; PROTEINS; RESPIRATORY TRACT INFECTIONS; SEQUENCE ANALYSIS, DNA; SYNDROME; VARIATION (GENETICS);

EID: 33749608829     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exphem.2006.06.009     Document Type: Article

References (17)

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