THE BIOCHEMICAL BASIS OF X-LINKED CHONDRODYSPLASIA PUNCTATA. CHARACTERIZATION OF THREE NEW SULFATASES ENCLODED BY A CLUSTER OF GENES LOCALIZED IN Xp22.3
- 2 Anni 1995/1997
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Pubblicazioni Scientifiche
- 1997 AMERICAN JOURNAL OF MEDICAL GENETICS
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene
- 1998 AMERICAN JOURNAL OF HUMAN GENETICS
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata
