Atıf İçin Kopyala
KARA B., Ayhan O., Gokcay G. F., Basbogaoglu N., TOLUN A.
BMC medical genetics, cilt.15, ss.10, 2014 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
15
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Basım Tarihi:
2014
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Doi Numarası:
10.1186/1471-2350-15-10
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Dergi Adı:
BMC medical genetics
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.10
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Anahtar Kelimeler:
SRD5A3, SRD5A3, CDG, CDG, Glycosylation defect, HOMOZYGOUS FRAMESHIFT MUTATION, AUTOSOMAL RECESSIVE SYNDROME, CONGENITAL DISORDER, GLYCOSYLATION, ABNORMALITIES, CDG, POLYPRENOL, DOLICHOL, FAMILY
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İstanbul Üniversitesi Adresli:
Evet
Özet
Background: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating.