Successful carrier ­identification by ­messenger ­RNA ­analys is ­for ­one ­hemophilia­ A family ­without­ found­ DNA­ mutations

Chia-Yau Chang; Shu-Hsia Hu; Shyr-Yi Lin; Yeu Chin Chen

Successful carrier identification by messenger RNA analys is for one hemophilia A family without found DNA mutations

Chia-Yau Chang, Shu-Hsia Hu, Shyr-Yi Lin, Yeu Chin Chen

研究成果: 雜誌貢獻 › 特刊 › 同行評審

摘要

Introductionand Objectives: Identifying carrier status for female members in a hemophilia family is important for genetic counseling. There are 2~7% of Hemophilia A (HA) patients whose mutations can-not be found by DNA-based analysis of F8 gene. For those patients without found DNA mutations, identification of carrier status for female members is very difficult because of the existing wild-type X- chromosome. We aimed to share our experience to identify the carrier status by mRNA analysis with customized primers in a HA family with skipped exon 19 transcript

原文	英語
文章編號	T-P-001(351)
頁（從 - 到）	193
頁數	1
期刊	Haemophilia
卷	24
發行號	S5
出版狀態	已發佈 - 5月 2018

其它文件與鏈接

https://doi.org/10.1111/hae.13478

引用此

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title = "Successful carrier identification by messenger RNA analys is for one hemophilia A family without found DNA mutations",

abstract = "Introductionand Objectives: Identifying carrier status for female members in a hemophilia family is important for genetic counseling. There are 2~7% of Hemophilia A (HA) patients whose mutations can-not be found by DNA-based analysis of F8 gene. For those patients without found DNA mutations, identification of carrier status for female members is very difficult because of the existing wild-type X- chromosome. We aimed to share our experience to identify the carrier status by mRNA analysis with customized primers in a HA family with skipped exon 19 transcript",

author = "Chia-Yau Chang and Shu-Hsia Hu and Shyr-Yi Lin and Chen, {Yeu Chin}",

year = "2018",

month = may,

language = "English",

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pages = "193",

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T1 - Successful carrier identification by messenger RNA analys is for one hemophilia A family without found DNA mutations

AU - Chang, Chia-Yau

AU - Hu, Shu-Hsia

AU - Lin, Shyr-Yi

AU - Chen, Yeu Chin

PY - 2018/5

Y1 - 2018/5

N2 - Introductionand Objectives: Identifying carrier status for female members in a hemophilia family is important for genetic counseling. There are 2~7% of Hemophilia A (HA) patients whose mutations can-not be found by DNA-based analysis of F8 gene. For those patients without found DNA mutations, identification of carrier status for female members is very difficult because of the existing wild-type X- chromosome. We aimed to share our experience to identify the carrier status by mRNA analysis with customized primers in a HA family with skipped exon 19 transcript

AB - Introductionand Objectives: Identifying carrier status for female members in a hemophilia family is important for genetic counseling. There are 2~7% of Hemophilia A (HA) patients whose mutations can-not be found by DNA-based analysis of F8 gene. For those patients without found DNA mutations, identification of carrier status for female members is very difficult because of the existing wild-type X- chromosome. We aimed to share our experience to identify the carrier status by mRNA analysis with customized primers in a HA family with skipped exon 19 transcript

UR - https://doi.org/10.1111/hae.13478

M3 - Special issue

SN - 1351-8216

VL - 24

SP - 193

JO - Haemophilia

JF - Haemophilia

IS - S5

M1 - T-P-001(351)

ER -

Successful carrier ­identification by ­messenger ­RNA ­analys is ­for ­one ­hemophilia­ A family ­without­ found­ DNA­ mutations

摘要

其它文件與鏈接

指紋

引用此

Successful carrier identification by messenger RNA analys is for one hemophilia A family without found DNA mutations