Mutations in SBDS are associated with Shwachman-Diamond syndrome

Nature Genetics

Volumn 33, Issue 1, 2003, Pages 97-101

  Boocock, Graeme R B ^a,b   Morrison, Jodi A ^a   Popovic, Maja ^a,b   Richards, Nicole ^a   Ellis, Lynda ^c,d   Durie, Peter R ^c,d   Rommens, Johanna M ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMINO ACID COMPOSITION; ARTICLE; CHONDROGENESIS; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE CONVERSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; GENETIC TRANSCRIPTION; GENOME SIZE; HEMATOPOIESIS; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MOLECULAR SIZE; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PANCREAS; PRIORITY JOURNAL; PROTEIN FAMILY; PSEUDOGENE; RNA METABOLISM; RNA PROCESSING; SEGREGATION DISTORTION; SHWACHMAN SYNDROME;

ALLELES; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 7; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; GENE CONVERSION; GENE EXPRESSION PROFILING; HEMATOLOGIC DISEASES; HUMANS; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUSCULOSKELETAL ABNORMALITIES; MUTATION; PROTEINS; PSEUDOGENES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SYNDROME;

ARCHAEA; EUKARYOTA;

EID: 0037229094     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1062     Document Type: Article

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