Rhnull disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background.

Article

Rhnull disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background.

Blood - 15 Jul 1998

Huang C H, Chen Y, Reid M E, Seidl C

Abstract excerpt

Rhnull disease, which includes the amorph and regulator types, is a rare genetic disorder characterized by stomatocytosis and chronic hemolytic anemia. We studied here a German family transmitting a putative amorph Rhnull disease gene and identified a rare mutation causing the loss-of-function ph...

Topics

Amino Acid Sequence
Antigens, CD
Base Sequence
Blood Proteins
CD47 Antigen
Carrier Proteins
Female
Glycoproteins
Humans
Male
Membrane Glycoproteins
Molecular Sequence Data
Mutation
Pedigree
Rh-Hr Blood-Group System

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