UNTERSUCHUNGEN ZUR MOLEKULAREN BIOLOGIE DES ADRENOGENITALEN SYNDROMS. NEUE MOGLICHKEITEN DES HETERO-ZYGOTEN-SCREENING

B. O. Bohm; C. Rosak; T. L J Bohm; P. C. White; K. Schöffling

doi:10.1055/s-2008-1068009

UNTERSUCHUNGEN ZUR MOLEKULAREN BIOLOGIE DES ADRENOGENITALEN SYNDROMS. NEUE MOGLICHKEITEN DES HETERO-ZYGOTEN-SCREENING

Translated title of the contribution: Molecular biology of the adrenogenital syndrome. New possibilities of heterozygote screening

B. O. Bohm, C. Rosak, T. L J Bohm, P. C. White, K. Schöffling

Research output: Contribution to journal › Article › peer-review

Abstract

The adrenogenital syndrome is one of the most frequent metabolic diseases. This disorder of adrenal biosynthesis can now be classified unequivocally on the basis of molecular biological techniques. In its classical form, this disease is characterized by loss of the gene region which codes for adrenal 21-hydroxylase. The techniques of gene analysis enable unequivocal identification of carriers of heterozygotic and homozygotic features and hence affords the basis for a rational concept for therapy of this disease.

Translated title of the contribution	Molecular biology of the adrenogenital syndrome. New possibilities of heterozygote screening
Original language	German
Pages (from-to)	87-89
Number of pages	3
Journal	Deutsche Medizinische Wochenschrift
Volume	112
Issue number	3
DOIs	https://doi.org/10.1055/s-2008-1068009
State	Published - 1987

ASJC Scopus subject areas

General Medicine

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abstract = "The adrenogenital syndrome is one of the most frequent metabolic diseases. This disorder of adrenal biosynthesis can now be classified unequivocally on the basis of molecular biological techniques. In its classical form, this disease is characterized by loss of the gene region which codes for adrenal 21-hydroxylase. The techniques of gene analysis enable unequivocal identification of carriers of heterozygotic and homozygotic features and hence affords the basis for a rational concept for therapy of this disease.",

author = "Bohm, {B. O.} and C. Rosak and Bohm, {T. L J} and White, {P. C.} and K. Sch{\"o}ffling",

year = "1987",

doi = "10.1055/s-2008-1068009",

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AU - Rosak, C.

AU - Bohm, T. L J

AU - White, P. C.

AU - Schöffling, K.

PY - 1987

Y1 - 1987

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AB - The adrenogenital syndrome is one of the most frequent metabolic diseases. This disorder of adrenal biosynthesis can now be classified unequivocally on the basis of molecular biological techniques. In its classical form, this disease is characterized by loss of the gene region which codes for adrenal 21-hydroxylase. The techniques of gene analysis enable unequivocal identification of carriers of heterozygotic and homozygotic features and hence affords the basis for a rational concept for therapy of this disease.

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UNTERSUCHUNGEN ZUR MOLEKULAREN BIOLOGIE DES ADRENOGENITALEN SYNDROMS. NEUE MOGLICHKEITEN DES HETERO-ZYGOTEN-SCREENING

Abstract

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