FLJ14813 missense mutation: A candidate for autosomal dominant thrombocytopenia on human chromosome 10

Human Heredity

Volumn 55, Issue 1, 2003, Pages 66-70

  Gandhi, Manish J ^a,b   Cummings, Carrie L ^a   Drachman, Jonathan G ^a,b  

^a PUGET SOUND BLOOD CENTER   (United States)

^b UNIVERSITY OF WASHINGTON MEDICAL CENTER   (United States)

Author keywords

Autosomal dominant; Chromosome 10; FLJ14813; Inherited thrombocytopenia; Platelet

Indexed keywords

ASPARTIC ACID; CYTOSINE; GLUTAMIC ACID; GUANIDINE; NUCLEOTIDE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 10; CONTROLLED STUDY; DATA BASE; EXON; FLJ14813 GENE; GENE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTOPENIA;

AMINO ACID SUBSTITUTION; ASPARTIC ACID; BLOTTING, SOUTHERN; CHROMOSOMES, HUMAN, PAIR 10; GENES, DOMINANT; GENOTYPE; GLUTAMIC ACID; HAPLOTYPES; HUMANS; MICROSATELLITE REPEATS; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION, MISSENSE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; THROMBOCYTOPENIA;

EID: 0042173047     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000071812     Document Type: Article

References (4)

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2. Savoia A, Vecchio MD, Totaro A, Perrotta S, Amendola G, Moretti A, Zelante L, Iolascon A: An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. Am J Hum Genet 1999;65:1401-1405.
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4. VonDerLinden D, Ma X, Sandberg EM, Gernert K, Bernstein KE, Sayeski PP: Mutation of glutamic acid residue 1046 abolishes Jak2 tyrosine kinase activity. Mol Cell Biochem 2002;241:87-94.