Literature DB >> 4743351

Hemoglobin Casper: beta 106 (G8) Leu leads to Pro; a contemporary mutation.

R D Koler, R T Jones, R H Bigley, M Litt, E Lovrien, R Brooks, M E Lahey, R Fowler.   

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Year:  1973        PMID: 4743351     DOI: 10.1016/0002-9343(73)90213-1

Source DB:  PubMed          Journal:  Am J Med        ISSN: 0002-9343            Impact factor:   4.965


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  7 in total

1.  Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.

Authors:  R M Goodman; M B Katznelson; M Hertz; A Katznelson
Journal:  J Med Genet       Date:  1976-04       Impact factor: 6.318

2.  Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations.

Authors:  G Stamatoyannopoulos; P E Nute; E Giblett; J Detter; R Chard
Journal:  J Med Genet       Date:  1976-04       Impact factor: 6.318

3.  An unstable haemoglobin, Hb Tacoma beta30 (B12) arg leads to ser, detected at birth by the demonstration of red cell inclusions.

Authors:  R A Deacon-Smith; J P Lee-Potter
Journal:  J Clin Pathol       Date:  1978-09       Impact factor: 3.411

4.  Characterization of hemoglobin Burke [beta 107 (G9) Gly replaced by Arg].

Authors:  J W Turner; R T Jones; B Brimhall; M C DuVal; R D Koler
Journal:  Biochem Genet       Date:  1976-08       Impact factor: 1.890

5.  De novo mutations producing unstable hemoglobins or hemoglobins M : I. Establishment of a Depository and use of data to test for an association of de novo mutation with advanced parental age.

Authors:  G Stamatoyannopoulos; P E Nute; M Miller
Journal:  Hum Genet       Date:  1981-10       Impact factor: 4.132

6.  Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman.

Authors:  Julio Abayuba da Luz Pereira; Pablo López; Fernando Ferreira Costa; Mónica Sans; Maria de Fatima Sonati
Journal:  Rev Bras Hematol Hemoter       Date:  2013

7.  Another Rare Unstable Hemoglobinopathy: Hemoglobin Casper/Southampton Associated with Moyamoya Disease.

Authors:  Asim Haque; Douglas J Quint; Valerie P Castle; Steven M Leber
Journal:  Cerebrovasc Dis Extra       Date:  2015-05-21
  7 in total

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