Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.

de Verneuil, H; Hansen, J; Picat, C; Grandchamp, B; Kushner, J; Roberts, A; Elder, G; Nordmann, Y

de Verneuil, H; Hansen, J; Picat, C; Grandchamp, B; Kushner, J; Roberts, A; Elder, G; Nordmann, Y.

Afiliación

de Verneuil H; Faculté de Médecine Xavier Bichat, Laboratoire de Génétique Moléculaire, Colombes, France.

Hum Genet ; 78(1): 101-2, 1988 Jan.

Article en En | MEDLINE | ID: mdl-2892774

ABSTRACT

ABSTRACT

The prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria (HEP) was investigated by the use of hybridization with a synthetic oligonucleotide probe. The mutation was found in HEP-affected members of two unrelated families from Spain, but was absent in two other patients from Italy and Portugal who also had HEP. Moreover, this mutation was not detected in 13 unrelated cases of familial (type II) porphyria cutanea tarda.

Asunto(s)

Carboxiliasas/genética; Hepatopatías/genética; Mutación; Porfirias/genética; Enfermedades de la Piel/genética; Uroporfirinógeno Descarboxilasa/genética; ADN/genética; Glutamatos; Ácido Glutámico; Glicina; Humanos; Hibridación de Ácido Nucleico

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Bases de datos: MEDLINE Asunto principal: Porfirias / Enfermedades de la Piel / Uroporfirinógeno Descarboxilasa / Carboxiliasas / Hepatopatías / Mutación Tipo de estudio: Prevalence_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Genet Año: 1988 Tipo del documento: Article País de afiliación: Francia

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