A GPHN point mutation leading to molybdenum cofactor deficiency

Authors :: U Lenz
S Joriot-Chekaf
K Mention-Mulliez
J Reiss
C Aquaviva-Bourdain
M Holder-Espinasse
Source :: Clinical Genetics. 80:598-599
Publication Year :: 2011
Publisher :: Wiley, 2011.

Subjects :: 0303 health sciences
Metal metabolism
Chemistry
Point mutation
Sequence alignment
medicine.disease
03 medical and health sciences
0302 clinical medicine
Biochemistry
Genetics
medicine
Peptide sequence
Molybdenum cofactor deficiency
030217 neurology & neurosurgery
Genetics (clinical)
030304 developmental biology

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