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

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

Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Mariam Al-Ali, Mariam S. Al-Mureikhi, Shelley Kennedy, Ghalia Al-Thani, Lap-Chee Tsui and Ahmad Said Teebi
American journal of medical genetics. Part A, Vol.128A(1), pp.39-45
01/07/2004
PMID: 15211654

Abstract

autosomal recessive B4GALT7 mutation connective tissue disorders facioskeletal type of EDS progeroid-like phenotype

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