A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia

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• 作者：Birgit Mentrup^a ; ^{b-mentrup.klh@uni-wuerzburg.de} ; Hermann Girschick^b ; Franz Jakob^a ; Christine Hofmann^c
• 关键词：Hypophosphatasia ; Alkaline phosphatase ; Intron deletion ; Splicing ; Branch-point ; Transcript variant
• 刊名：Bone
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：94
• 期：Complete
• 页码：75-83
• 全文大小：1168 K
• 卷排序：94

文摘

The first functional characterization of a mutation located in an intron of the ALPL gene A 20 bp deletion was discovered in a boy with infantile hypophosphatasia. The homozygous loss of a branch point motif in intron 7 results in a truncated non-functional TNAP enzyme. Nevertheless a certain amount of residual TNAP activity has been preserved probably ensuring the survival of the disease.