<b>Supplementary Materials </b><b>of C</b><b>linical and Molecular Genetic Characteristics of the Patients with Hereditary Hypophosphatemia </b><b>Supplementary</b><b> </b><b>Documents</b>

<b>Supplementary Materials </b><b>of C</b><b>linical and Molecular Genetic Characteristics of the Patients with Hereditary Hypophosphatemia </b><b>Supplementary</b><b> </b><b>Documents</b>

<p dir="ltr"><b>Supplementary</b><b> </b><b>Documents:</b></p><p dir="ltr"><b>Supplementary</b><b> </b><b>Table.</b><b> </b>Summary of clinical and biochemical characteristics of...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Mehmet Eltan (19324532) (author)
مؤلفون آخرون: Ceren Alavanda (19324522) (author), Zehra Abali (8943512) (author), Busra Gurpinar Tosun (11192361) (author), Ilknur Kurt (19324538) (author), Tarik Kirkgoz (19324539) (author), Sercin Guven (19325526) (author), Sare Betul Kaygusuz (10524369) (author), Saygin Abali (19325529) (author), Didem Helvacioglu (19325531) (author), tulay guran (6202136) (author), Ibrahim Gokce (19325533) (author), Ahmet Arman (19325535) (author), Abdullah Bereket (17713354) (author), Pinar Ata (19325537) (author), Serap Turan (17713353) (author)
منشور في: 2024
الموضوعات:
Endocrinology
Hereditary hypophosphatemia
Rickets, Hypophosphatemic
PHEX
SLC34A3
SLC34A1
CLCN5
الوسوم: إضافة وسم
لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!
الوصف
الملخص:<p dir="ltr"><b>Supplementary</b><b> </b><b>Documents:</b></p><p dir="ltr"><b>Supplementary</b><b> </b><b>Table.</b><b> </b>Summary of clinical and biochemical characteristics of the patients at admission</p><p dir="ltr"><b>Supplementary</b><b> </b><b>Figure 1.</b> A pipeline for the molecular diagnosis of HH cases.</p><p dir="ltr"><b>Supplementary</b><b> </b><b>Figure 2.</b><b> </b>Pedigree of family 37 (F#37)</p><p dir="ltr"><b>Supplementary</b><b> </b><b>Figure 3.</b><b> </b>MLPA images of the PHEX gene copy number variants: <b>a)</b> Exon 4-12 duplication detected in F#1-P#1 and P#2, <b>b)</b> Exon 2 deletion detected in F#2-P#3, <b>c)</b> Exon 16 duplication detected in F#19-P#24.</p>

مواد مشابهة