Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

<p>Abstract</p> <p>Background</p> <p>Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported cases have been molecul...

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Detalhes bibliográficos
Main Authors: Tanner Stephan M, Sturm Amy C, Baack Elizabeth C, Liyanarachchi Sandya, de la Chapelle Albert
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2012-08-01
Colecção:Orphanet Journal of Rare Diseases
Assuntos:
Vitamin B<sub>12</sub>
Cobalamin
Hereditary cobalamin malabsorption
Amnionless
Gastric intrinsic factor
Cubilin
Ancestry
Genetic testing
Founder mutation
Genetic heterogeneity
Acesso em linha:http://www.ojrd.com/content/7/1/56
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