Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family

Michelle C. Do Rosario; Greeshma Purushothama; Dhanya Lakshmi Narayanan; Shahyan Siddiqui; Katta Mohan Girisha; Anju Shukla

doi:10.1097/mcd.0000000000000452

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family

Michelle C. Do Rosario, Greeshma Purushothama, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Katta Mohan Girisha, Anju Shukla^*

^*المؤلف المقابل لهذا العمل

Genetics

نتاج البحث: المساهمة في مجلة › Article › مراجعة النظراء

1 اقتباس (Scopus)

اللغة الأصلية	English
الصفحات (من إلى)	112-115
عدد الصفحات	4
دورية	Clinical Dysmorphology
مستوى الصوت	32
رقم الإصدار	3
المعرِّفات الرقمية للأشياء	https://doi.org/10.1097/mcd.0000000000000452
حالة النشر	Published - يوليو 1 2023

ASJC Scopus subject areas

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الوصول إلى المستند

10.1097/mcd.0000000000000452

الملفات والروابط الأخرى

قم بذكر هذا

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family. / Do Rosario, Michelle C.; Purushothama, Greeshma; Narayanan, Dhanya Lakshmi وآخرون.
في: Clinical Dysmorphology, المجلد 32, رقم 3, ٠١.٠٧.٢٠٢٣, صفحة 112-115.

نتاج البحث: المساهمة في مجلة › Article › مراجعة النظراء

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keywords = "Humans, Fucosidosis/genetics, Homozygote, Exome Sequencing, Sequence Deletion/genetics, Exons/genetics, alpha-L-Fucosidase/genetics",

author = "{Do Rosario}, {Michelle C.} and Greeshma Purushothama and Narayanan, {Dhanya Lakshmi} and Shahyan Siddiqui and Girisha, {Katta Mohan} and Anju Shukla",

note = "Funding Information: The National Institutes of Health, United States of America funded the project titled {\textquoteleft}Genetic Diagnosis of Neurodevelopmental Disorders in India{\textquoteright} (Grant ID: 1R01HD093570-01A1). ",

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doi = "10.1097/mcd.0000000000000452",

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AU - Do Rosario, Michelle C.

AU - Purushothama, Greeshma

AU - Narayanan, Dhanya Lakshmi

AU - Siddiqui, Shahyan

AU - Girisha, Katta Mohan

AU - Shukla, Anju

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KW - Fucosidosis/genetics

KW - Homozygote

KW - Exome Sequencing

KW - Sequence Deletion/genetics

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KW - alpha-L-Fucosidase/genetics

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