A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis ; volume:5 ; number:1 ; day:6 ; month:10 ; year:2010 ; pages:1-5 ; date:12.2010
Orphanet journal of rare diseases ; 5, Heft 1 (6.10.2010), 1-5, 12.2010
- Creator
-
Schneider, Hauke
- Contributor
-
Lingesleben, Alexandra
Vogel, Hans-Peter
Garuti, Rita
Calandra, Sebastiano
SpringerLink (Online service)
- DOI
-
10.1186/1750-1172-5-27
- URN
-
urn:nbn:de:1111-2016050118796
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
- 14.08.2025, 10:57 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Schneider, Hauke
- Lingesleben, Alexandra
- Vogel, Hans-Peter
- Garuti, Rita
- Calandra, Sebastiano
- SpringerLink (Online service)
Other Objects (12)
Autosomal recessive cerebellar ataxias
Genetics of autosomal recessive intellectual disability
Autosomal recessive myotonia congenita in sheep
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations
Prenatal diagnosis of autosomal recessive osteopetrosis: a case report
Early clinical management of autosomal recessive polycystic kidney disease
Milestone discoveries of autosomal recessive childhood proximal spinal muscular atrophies
Investigation of the genetical basis of autosomal recessive Cutis Laxa
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
The role of CDK5RAP2 in autosomal recessive primary microcephaly (MCPH)
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Histologic definition on the CIC-7 knockout-mouse : (autosomal recessive osteopetrosis)
Autosomal recessive cerebellar ataxias
Genetics of autosomal recessive intellectual disability
Autosomal recessive myotonia congenita in sheep
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations
Prenatal diagnosis of autosomal recessive osteopetrosis: a case report
Early clinical management of autosomal recessive polycystic kidney disease
Milestone discoveries of autosomal recessive childhood proximal spinal muscular atrophies
Investigation of the genetical basis of autosomal recessive Cutis Laxa
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
The role of CDK5RAP2 in autosomal recessive primary microcephaly (MCPH)
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Histologic definition on the CIC-7 knockout-mouse : (autosomal recessive osteopetrosis)
Autosomal recessive cerebellar ataxias
Genetics of autosomal recessive intellectual disability
Autosomal recessive myotonia congenita in sheep
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations
Prenatal diagnosis of autosomal recessive osteopetrosis: a case report
Early clinical management of autosomal recessive polycystic kidney disease
Milestone discoveries of autosomal recessive childhood proximal spinal muscular atrophies
Investigation of the genetical basis of autosomal recessive Cutis Laxa
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
The role of CDK5RAP2 in autosomal recessive primary microcephaly (MCPH)
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic