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Journal Article
neurogenetics, ISSN 1364-6745, 3/2019, Volume 20, Issue 1, pp. 39 - 43
Journal Article
by Le, Xia and Jun, Lu
Chinese Journal of Medical Genetics, ISSN 1003-9406, 05/2019, Volume 36, Issue 5, pp. 468 - 471
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 04/2012, Volume 2, Issue 6, pp. 254 - 258
We report on female siblings with pyknodysostosis who showed common clinical and radiographic features including disproportionate short stature, dental... 
Short Report | Compound heterozygous mutations | Chondroitin 4-sulfate | Cathepsin K | Pyknodysostosis
Journal Article
Journal Article
BMC Neurology, ISSN 1471-2377, 11/2018, Volume 18, Issue 1, pp. 196 - 6
Journal Article
Journal of medical case reports, ISSN 1752-1947, 04/2019, Volume 13, Issue 1, pp. 101 - 6
Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL. Clinically, hypophosphatasia can be... 
Osteoporosis | Phosphatases | Bones | Adults | Genetic aspects | Health aspects | Density | Enzymes | Young adults | Laboratories | Thyroid gland | Phosphatase | Patients | Bone surgery | Proteins | Fractures | Pain | X rays | Hemoglobin | Mutation | Potassium | Alkaline phosphatase | Compound heterozygous mutation | Hypophosphatasia | Medical checkup
Journal Article
Channels, ISSN 1933-6950, 03/2012, Volume 6, Issue 2, pp. 133 - 138
K ATP channels regulate insulin secretion by coupling β-cell metabolism to membrane excitability. These channels are comprised of a pore-forming Kir6.2... 
neonatal diabetes | ABCC8 | SUR1 | sulfonylureas | channel | compound heterozygous mutations | K | ATP
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 02/2012, Volume 29, Issue 1, pp. 1 - 4
Journal Article
Journal Article
NETHERLANDS HEART JOURNAL, ISSN 1568-5888, 12/2009, Volume 17, Issue 12, pp. 458 - 463
Background. With the improvement in genetic testing over time, double-heterozygous mutations are more often found by coincidence in families with hypertrophic... 
hypertrophic | CARDIAC & CARDIOVASCULAR SYSTEMS | HEAVY-CHAIN GENE | HEART-FAILURE | COMPOUND | MUSCLE LIM PROTEIN | double-heterozygous mutations | DILATED CARDIOMYOPATHY | MODEL | proBNP | genetics | MAGNETIC-RESONANCE | cardiomyopathy
Journal Article
Journal Article