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PMID: 7382247 Published · ppublish English Journal Article Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Possible gonadal mosaicism in a family with hemoglobin Köln.

The Johns Hopkins medical journal ·Vol. 146 ·No. 6 ·1980-06-00 ·Pages 236-40

Bradley TB, Wohl RC, Petz LD, Perkins HA, Reynolds RD

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.

MeSH Terms

Adult Female Heinz Bodies Hemoglobins, Abnormal/analysis,genetics Hemolytic-Uremic Syndrome/blood,congenital,genetics Humans Male Mosaicism Mutation

Chemicals

Hemoglobins, Abnormal

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Bradley T B

Wohl R C

Petz L D

Perkins H A

Reynolds R D

Article Info

Journal

The Johns Hopkins medical journal

Abbr.

Johns Hopkins Med J

ISSN

0021-7263

Published

1980-06-00

Pages

236-40

Language

English

Region

United States

NLM ID

0072456

Subset

External Links

PubMed source

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Possible gonadal mosaicism in a family with hemoglobin Köln.

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