Literature DB >> 7382247

Possible gonadal mosaicism in a family with hemoglobin Köln.

T B Bradley, R C Wohl, L D Petz, H A Perkins, R D Reynolds.   

Abstract

A brother and sister were the first members of a family to possess hemoglobin Köln (alpha 2 beta 2(98) Val leads to Met). Studies of these siblings and their parents strongly indicated that the anomaly had arisen by spontaneous mutation. Gonadal mosaicism of one of the parents offers the best explanation for the appearance of a spontaneous mutation in multiple members of a sibship.

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Year:  1980        PMID： 7382247

Source DB:  PubMed          Journal:  Johns Hopkins Med J        ISSN： 0021-7263


  8 in total

1.  Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

Authors:  T Grimm; B Müller; C R Müller; M Janka
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

2.  Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.

Authors:  K Wieland; D S Millar; C B Grundy; R S Mibashan; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

Review 3.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

4.  Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Authors:  P H Byers; P Tsipouras; J F Bonadio; B J Starman; R C Schwartz
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

5.  Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity.

Authors:  H Wajcman; E Girodon; D Promé; M L North; F Plassa; I Duwig; J Kister; J P Bergerat; F Oberling; E Lampert
Journal:  Hum Genet       Date:  1995-12       Impact factor: 4.132

6.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

7.  Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

Authors:  S A Taylor; K V Deugau; D P Lillicrap
Journal:  Proc Natl Acad Sci U S A       Date:  1991-01-01       Impact factor: 11.205

8.  Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Authors:  D H Cohn; B J Starman; B Blumberg; P H Byers
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025
  8 in total

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