A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type-Reference-Cited by-同舟云学术

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

Published:2004 Issue:1 Volume:128A Page:39-45
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Faiyaz-Ul-Haque Muhammad,Zaidi Syed Hassan Ejaz,Al-Ali Mariam,Al-Mureikhi Mariam S.,Kennedy Shelley,Al-Thani Ghalia,Tsui Lap-Chee,Teebi Ahmad Said

Publisher

Wiley

Subject

Genetics (clinical)

Reference23 articles.

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2. Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases

3. Growth retardation and early death of beta -1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells

4. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

5. Structure/function studies of glycosyltransferases

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