First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.

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Preimplantation genetic diagnosis for cystic fibrosis: a case report

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First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.

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2012 nî lūn-bûn

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First successful preimplantati ...... l c.4505-4508insACTC mutation.

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First successful preimplantati ...... l c.4505-4508insACTC mutation.

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First successful preimplantati ...... l c.4505-4508insACTC mutation.

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First successful preimplantati ...... l c.4505-4508insACTC mutation.

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First successful preimplantati ...... l c.4505-4508insACTC mutation.

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First successful preimplantati ...... l c.4505-4508insACTC mutation.

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First successful preimplantati ...... l c.4505-4508insACTC mutation.

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P2860

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations

Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

Pre-embryonic diagnosis for Sandhoff disease

Death from colonic disease in epidermolysis bullosa dystrophica

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics.

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First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.

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P2860

P2860

First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.

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