ABCC7 p.Asp36Asn
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PMID: 21184098
[PubMed]
de Becdelievre A et al: "Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy."
No.
Sentence
Comment
113
[D36N] c.[1521_1523delCTT]?
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ABCC7 p.Asp36Asn 21184098:113:1
status: NEW279 Much more difficult cases to manage are those where mutations of unknown significance are found, such as D36N (p.Asp36Asn, c.106G[A), L548Q (p.Leu548Gln, c.1643T[A) and V920M (p.Val920Met, c.2758G[A), which were considered as potentially CF-causing.
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ABCC7 p.Asp36Asn 21184098:279:105
status: NEWX
ABCC7 p.Asp36Asn 21184098:279:113
status: NEW280 This was supported by follow-up after birth for the case with the D36N mutation while, in the case with the L548Q mutation the fetopathological analysis was not contributive (Yamamoto et al. 2006).
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ABCC7 p.Asp36Asn 21184098:280:66
status: NEW