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GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
- Source :
- American Journal of Human Genetics. Oct, 2002, Vol. 71 Issue 4, p863, 14 p.
- Publication Year :
- 2002
- Subjects :
- Human genetics
Metabolic diseases -- Research
Metabolic diseases -- Genetic aspects
Metabolic diseases -- Health aspects
Metabolic diseases -- Demographic aspects
Dwarfism -- Genetic aspects
Dwarfism -- Causes of
Dwarfism -- Demographic aspects
Cholestasis -- Genetic aspects
Cholestasis -- Causes of
Cholestasis -- Demographic aspects
Jaundice, Obstructive
Gene expression -- Physiological aspects
Proteins -- Genetic aspects
Mitochondrial DNA -- Genetic aspects
Biological sciences
Subjects
Details
- ISSN :
- 00029297
- Volume :
- 71
- Issue :
- 4
- Database :
- Gale General OneFile
- Journal :
- American Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- edsgcl.93305785