Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.

Fricke, Britta; Jarvis, Helen G; Reid, Cecil D L; Aguilar-Martinez, Patricia; Robert, A; Quittet, P; Chetty, Margaret; Pizzey, Arnold; Cynober, Thérèse; Lande, William F; Mentzer, William C; Düring, Monika; Winter, Stuart; Delaunay, Jean; Stewart, Gordon W

Fricke, Britta; Jarvis, Helen G; Reid, Cecil D L; Aguilar-Martinez, Patricia; Robert, A; Quittet, P; Chetty, Margaret; Pizzey, Arnold; Cynober, Thérèse; Lande, William F; Mentzer, William C; Düring, Monika; Winter, Stuart; Delaunay, Jean; Stewart, Gordon W.

Affiliation

Fricke B; Abteilung fuer Neuroanatomie, Institut fuer Anatomie, Bochum, Germany.

Br J Haematol ; 125(6): 796-803, 2004 Jun.

Article in En | MEDLINE | ID: mdl-15180870

Subject(s)

Anemia, Hemolytic, Congenital Nonspherocytic/complications; Blood Proteins/deficiency; Membrane Proteins/deficiency; Adult; Blotting, Western/methods; Erythrocyte Membrane/chemistry; Female; Humans; Infant, Newborn; Male; Pedigree; Syndrome

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Database: MEDLINE Main subject: Blood Proteins / Anemia, Hemolytic, Congenital Nonspherocytic / Membrane Proteins Type of study: Risk_factors_studies Limits: Adult / Female / Humans / Male / Newborn Language: En Year: 2004 Type: Article

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