| Original Article | ||||||||||||
JBCGenetics. 2023; 6(1): 22-28 Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene Anam Nayab, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, Ahmed Waqas.
| ||||||||||||
| How to Cite this Article |
| Pubmed Style Nayab A, Andleeb S, Zeb S, Manzoor HY, Zehri Z, Mahmood A, Khan H, Umair M, Waqas A. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. JBCGenetics. 2023; 6(1): 22-28. doi:10.24911/JBCGenetics/183-1673224261 Web Style Nayab A, Andleeb S, Zeb S, Manzoor HY, Zehri Z, Mahmood A, Khan H, Umair M, Waqas A. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. https://www.jbcgenetics.com//?mno=137867 [Access: August 15, 2023]. doi:10.24911/JBCGenetics/183-1673224261 AMA (American Medical Association) Style Nayab A, Andleeb S, Zeb S, Manzoor HY, Zehri Z, Mahmood A, Khan H, Umair M, Waqas A. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. JBCGenetics. 2023; 6(1): 22-28. doi:10.24911/JBCGenetics/183-1673224261 Vancouver/ICMJE Style Nayab A, Andleeb S, Zeb S, Manzoor HY, Zehri Z, Mahmood A, Khan H, Umair M, Waqas A. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. JBCGenetics. (2023), [cited August 15, 2023]; 6(1): 22-28. doi:10.24911/JBCGenetics/183-1673224261 Harvard Style Nayab, A., Andleeb, . S., Zeb, . S., Manzoor, . H. Y., Zehri, . Z., Mahmood, . A., Khan, . H., Umair, . M. & Waqas, . A. (2023) Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. JBCGenetics, 6 (1), 22-28. doi:10.24911/JBCGenetics/183-1673224261 Turabian Style Nayab, Anam, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, and Ahmed Waqas. 2023. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. Journal of Biochemical and Clinical Genetics, 6 (1), 22-28. doi:10.24911/JBCGenetics/183-1673224261 Chicago Style Nayab, Anam, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, and Ahmed Waqas. "Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene." Journal of Biochemical and Clinical Genetics 6 (2023), 22-28. doi:10.24911/JBCGenetics/183-1673224261 MLA (The Modern Language Association) Style Nayab, Anam, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, and Ahmed Waqas. "Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene." Journal of Biochemical and Clinical Genetics 6.1 (2023), 22-28. Print. doi:10.24911/JBCGenetics/183-1673224261 APA (American Psychological Association) Style Nayab, A., Andleeb, . S., Zeb, . S., Manzoor, . H. Y., Zehri, . Z., Mahmood, . A., Khan, . H., Umair, . M. & Waqas, . A. (2023) Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. Journal of Biochemical and Clinical Genetics, 6 (1), 22-28. doi:10.24911/JBCGenetics/183-1673224261 |
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389
Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
JBCGenetics. 2018; 1(1): 2-9
» Abstract » doi: 10.24911/JBCGenetics/183-1531548689
Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
JBCGenetics. 2018; 1(1): 31-36
» Abstract » doi: 10.24911/JBCGenetics/183-1529928114
AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
JBCGenetics. 2018; 1(1): 37-39
» Abstract » doi: 10.24911/JBCGenetics/183-1530040885
Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
JBCGenetics. 2018; 1(1): 40-42
» Abstract » doi: 10.24911/JBCGenetics/183-1531469195
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
JBCGenetics. 2019; 2(1): 28-39
» Abstract » doi: 10.24911/JBCGenetics/183-1542047633
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
JBCGenetics. 2018; 1(1): 10-18
» Abstract » doi: 10.24911/JBCGenetics/183-1532177257
Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
JBCGenetics. 2018; 1(1): 40-42
» Abstract » doi: 10.24911/JBCGenetics/183-1531469195
Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai
JBCGenetics. 2020; 3(1): 28-31
» Abstract » doi: 10.24911/JBCGenetics/183-1584426923
| |
About Journal of Biochemical and Clinical GeneticsThe Journal of Biochemical and Clinical Genetics (JBCGenetics) is an international peer-reviewed, open access medical journal. It is the officia ... Read more. For best results, please use Internet Explorer or Google Chrome. |
Contact InformationPublisher: Discover STM Publishing Ltd. 164 Moyville. Rathfarnham, Dublin, D16Y4E, Ireland Hours: M-F: 8:30am - 5:30pm Fax: +353 (0)1 633 5037 Phone: +353 (0) 87 2850699 Emails: Editor in Chief: dralfadhelm@jbcgenetics.com Journal Editorial Office: contact@jbcgenetics.com Billing & Technical Support: contact@discoverpublish.com |
