Genetic Disorders and the Fetus. Группа авторов

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Genetic Disorders and the Fetus - Группа авторов

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TTN AD 2 2 3 3 1 1 Cardiomyopathy, dilated, 1S (CMD1S) MYH7 AD 3 6 4 4 2 2 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) DSP AD 2 3 2 3 2 1 Cardiomyopathy, familial hypertrophic, 2 (CMH2) TNNT2 AD 1 2 1 1 1 0 Cardiomyopathy, familial hypertrophic, 4 (CMH4) MYBPC3 AD 14 22 16 23 11 9 Cardiomyopathy, familial hypertrophic, 7 (CMH7) TNNI3 AD 1 1 1 1 0 0 Cardiomyopathy, familial hypertrophic, 8 (CMH8) MYL3 AD 1 2 0 0 0 0 Carnitine deficiency, systemic primary (CDSP) SLC22A5 AR 1 2 1 2 1 1 Carnitine palmitoyltransferase II deficiency, infantile CPT2 AR 4 7 4 4 2 2 Cerebral arteriopathy, autosomal dominant NOTCH3 AD 3 7 6 6 6 4 Cerebral creatine deficiency syndrome 1 (CCDS1) SLC6A8 XL 1 1 1 2 1 1 Ceroid lipofuscinosis, neuronal 2, late infantile (CLN2) TPP1 AR 2 3 2 2 2 1 Ceroid lipofuscinosis, neuronal, 10 (CLN10) CTSD AR 1 1 2 3 1 1 Ceroid lipofuscinosis, neuronal, 5 (CLN5) CLN5 AR 1 1 2 3 0 0 Ceroid lipofuscinosis, neuronal, 6 (CLN6) CLN6 AR 2 2 1 2 0 0 Charcot–Marie–Tooth disease, axonal, type 2A2 (CMT2A2) MFN2 AD 2 9 6 7 2 2 Charcot–Marie–Tooth disease, axonal, type 2B (CMT2B) RAB7A AD 1 1 2 4 2 1 Charcot–Marie–Tooth disease, axonal, type 2E (CMT2E) NEFL AD 1 4 4 7 1 1 Charcot–Marie–Tooth disease, axonal, type 2F (CMT2F) HSPB1 AD 1 1 1 1 0 0 Charcot–Marie–Tooth disease, demyelinating, type 1A (CMT1A) PMP22

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