Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

Author:

McIntosh Iain,Dreyer Sandra D.,Clough Mark V.,Dunston Jennifer A.,Eyaid Wafa'a,Roig Carmen M.,Montgomery Tara,Ala-Mello Sirpa,Kaitila Ilkka,Winterpacht Andreas,Zabel Bernhard,Frydman Moshe,Cole William G.,Francomano Clair A.,Lee Brendan

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference32 articles.

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2. Hereditary onycho-osteodysplasia (nail-patella syndrome);Beals;J Bone Joint Surg,1969

3. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus;Am J Hum Genet,1995

4. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat Genet,1995

5. Disorders of collagen biosynthesis and structure;Byers,1997

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