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Non-amplification of an allele of the D8S1179 locus due to a point mutation

✍ Scribed by G.-R. Han; Eun-Seop Song; Juck-Joon Hwang


Publisher
Springer-Verlag
Year
2001
Tongue
German
Weight
115 KB
Volume
115
Category
Article
ISSN
0937-9827

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X-linked recessive chondrodysplasia punc
✍ Parenti, Giancarlo; Buttitta, Piera; Meroni, Germana; Franco, Brunella; Bernard, πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 19 KB πŸ‘ 2 views

Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by abnormal calcium deposition in areas of enchondral bone formation. The existence of an X-linked recessive form of chondrodysplasia punctata (CDPX) has been recognized in patients who are nullisomic f